LOVD - Variant listings for AR

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+/? 1 c.-912C>A 203C>A r.(?) p.(=) AR_00148 pos +214 from transcription initiation site AR-TIS II Crocitto 1997 DNA SEQ - Substitution 5' UTR - - germline (inherited) - cancer, prostate genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
+/? 1 c.-800G>T (415G>T) r.(?) p.? AR_00147 pos +2 from transcription initiation site AR-TIS II Crocitto 1997 DNA SEQ - Substitution 5' UTR - - germline (inherited) - cancer, prostate genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
+/? 1_8 c.(?_-1115)_(*436_?)del - r.0 p.0 AR_00122 - Hiort 1996 DNA SEQ - Deletion - - - germline (inherited) Bmax zero androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - familial - - - - 1
+/? 1_8 c.(?_-1115)_(*436_?)del - r.0 p.0 AR_00122 - Ahmed 2000 DNA SEQ - Deletion - - - germline (inherited) Bmax zero androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - unknown - - - - 1
+/? 1_8 c.(?_-1115)_(*436_?)del - r.0 p.0 AR_00122 - Quigley et al. J Clin Endocrinol Metab 74: 927-933, 1992 DNA SEQ - Deletion - - - germline (inherited) Bmax zero androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - familial - - - - 1
+/? 1_8 c.(?_-1115)_(*436_?)del - r.0 p.0 AR_00122 deletion breakpoints not yet defined Trifiro et al. Mol Cell Endocrinol 75: 37-47, 1991 DNA SEQ - Deletion - - - germline (inherited) Bmax zero androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - isolated (sporadic) - - - MR 1
+/? 1i c.(?_-1115)_6161+?del - r.0 p.0 AR_00450 expansion of Gln repeat >40 LaSpada et al. Nature 352: 77-79, 1991 DNA SEQ - Insertion N-term - - germline (inherited) - Kennedy Syndrome genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
+/? 1i c.(?_-1115)_6161+?del
    + c.172CAG[17]
- r.0 p.0 AR_00450 contraction of Gln repeat (24 to 18) Schoenberg et al. Biochem Biophys Res Comm 198: 74-80 1994 DNA SEQ - Deletion N-term - - somatic - cancer, prostate genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
+/? 1i c.(?_-1115)_6161+?del
    + c.172CAG[17]
- r.0 p.0 AR_00450 contraction of Gln repeat (20 to 18) Wallin et al. J Pathology 189: 559-653, 1999 DNA SEQ - Deletion N-term - - somatic - cancer, prostate genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
+/? 1i c.(?_-1115)_6161+?del
    + c.172CAG[21]
- r.0 p.0 AR_00450 - Watanabe et al. Jpn J Clin Oncol 27: 389-393, 1997 DNA SEQ - Deletion N-term - - somatic - cancer, prostate genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
+/? 1i c.(?_-1115)_6161+?del
    + c.172CAG[21]
- r.0 p.0 AR_00450 - Watanabe et al. Jpn J Clin Oncol 27: 389-393, 1997 DNA SEQ - Insertion N-term - - somatic - cancer, prostate genitalia normal sex of rearing M; 2 different patients Canada:Montreal - - unknown - - - - 2
+/? 1i c.(?_-1115)_6161+?del
    + c.172CAG[7]
- r.0 p.0 AR_00450 CAG8; normal maternal uncle CAG23 Kooy et al. Am J Med Genet 85: 389-393. 1999 DNA SEQ - Deletion N-term - - germline (inherited) Bmax normal; kD normal mental retardation genitalia normal sex of rearing M; 3 affected siblings Canada:Montreal - - familial - - - MR 3
+/? 1i c.(?_-1115)_6161+?del - r.0 p.0 AR_00450 - Urushibata et al. 10th. Int. Cong. Endocrinol Abstr. P3-706, 1996 DNA SEQ - Deletion N-term - - somatic - cancer, laryngeal genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
+/+ 1 c.?
    + c.172CAG[20], c.1351GGY[24], c.2659A>G
1034T>G r.(?) p.(=) AR_00000 - Yeh et al. Int J Cancer 120: 1610-1617, 2007 DNA SEQ - Substitution 5' UTR - - somatic - cancer, liver in tumour and non-tumorous; genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
+/? 1 c.?
    + c.758G>A, c.1338G>Y, c.1818A>G, c.2359C>T, c.2393T>C, c.2621T>C
- r.(?) p.(Arg485Cys) AR_00000 AR23 Steinkamp et al. Cancer Res 69: 4434-4442, 2009 DNA SEQ - Substitution N-term - - somatic - cancer, prostate flutamide treated; genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
+/? 1 c.?
    + c.1493C>T
- r.(?) p.(Arg485Cys) AR_00000 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 DNA SEQ - Substitution N-term - - somatic - cancer, prostate bicalutamide treated; genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
+/? 1 c.?
    + c.172CAG[19], c.1351GGY[18]
- r.(?) p.(Ser83fs*) AR_00000 - Audi 2010 DNA SEQ - Deletion N-term - - germline (inherited) Bmax zero; kD zero androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - familial - - - - 1
+/? 1 c.? - r.(?) 142 AR_00000 - Hiort 1996 DNA SEQ - Deletion N-term - - germline (inherited) - androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - unknown - - - - 1
+/? 1 c.? - r.(?) p.(Arg485Cys) AR_00000 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 DNA SEQ - Substitution N-term - - somatic - cancer, prostate both treated and untreated; genitalia normal sex of rearing M; 2 cases Canada:Montreal - - unknown - - - - 2
+/? 1 c.? - r.(?) p.(Arg485Thr) AR_00000 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 DNA SEQ - Substitution N-term - - somatic - cancer, prostate both treated and untreated; genitalia normal sex of rearing M; 2 cases Canada:Montreal - - unknown - - - - 2
+/? 1 c.? - r.(?) p.(Gly489fs*) AR_00000 - Ahmed 2000 DNA SEQ - Deletion N-term - - germline (inherited) Bmax low androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - unknown - - - - 1
?/? 1 c.? - r.(?) p.(Pro517Ser) AR_00000 - Yan et al. Psychiatric Genet 14: 57-60, 2004 DNA SEQ - Substitution N-term - - germline (inherited) - - phobia; genitalia normal sex of rearing ? Canada:Montreal - - unknown - - - - 1
+/? 1 c.?C>T 2558C>T (Tyr481Tyr) r.(?) p.(=) AR_00000 - Yeh et al. Int J Cancer 120: 1610-1617, 2007 DNA SEQ - Substitution N-term - - somatic - cancer, liver genitalia normal sex of rearing F Canada:Montreal - - unknown - - - - 1
+/? 1 c.4G>A
    + c.172CAG[26], c.1351GGY[13]
1119G>A r.(?) p.(Glu2Lys) AR_00136 - Audi 2010 DNA SEQ - Substitution N-term - - germline (inherited) Bmax low; kD high androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F; mother heterozygous Canada:Montreal - - familial - - - - 2
+/+ 1 c.4G>A 1119G>A r.(?) p.(Glu2Lys) AR_00136 variant protein 20-50% reduced Choong 1996 DNA SEQ - Substitution N-term - - germline (inherited) k high androgen insensitivity syndrome, partial (PAIS) genitalia ambiguous sex of rearing M Canada:Montreal - - familial - - - - 1
+/? 1 c.19delC 1134delC r.(?) p.(Leu7fs*) AR_00328 - Barbaro 2007 DNA SEQ - Deletion N-term - - germline (inherited) - androgen insensitivity syndrome, complete (CAIS) elevated testosterone, no WD development; genitalia normal sex of rearing F Canada:Montreal - - isolated (sporadic) - - - - 1
+/? 1 c.39_42dup
    + c.172CAG[19], c.1351GGY[9]
1154_1157dupGCCG r.(?) p.(Pro15fs*) AR_00398 - Audi 2010 DNA SEQ - Duplication N-term - - germline (inherited) - androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - familial - - - - 1
+/? 1 c.82C>T - r.(?) p.(Q28X AR_00315 - Katayama 2006 DNA SEQ - - - - - germline (inherited) - pseudohermaphroditism - - Raymond:Cambridge - - unknown - - - - 1
+/? 1 c.115_117del 1230_1232delCCC r.(?) p.(Pro39del) AR_00446 - Jung et al. Human Genetics 114: 222, 2004 DNA SEQ - Deletion N-term - - germline (inherited) - androgen insensitivity syndrome, complete (CAIS) - sex of rearing ? Canada:Montreal - - unknown - - - - 1
+/? 1 c.118delA 1233delA r.(?) p.(Arg40fs*) AR_00420 - Decaestecker et al.Fertility & Sterility 89: 1260 e3-7, 2008 DNA SEQ - Deletion N-term - - germline (inherited) - androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - familial - - - - 1
+/? 1 c.125delC 1240delC r.(?) p.(Pro42fs*) AR_00234 - Boehmer 2001 DNA SEQ - Deletion N-term - - germline (inherited) Bmax zero androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F; affected sibling Canada:Montreal - - familial - - - - 1
+/? 1 c.128A>G 1243A>G r.(?) p.(Glu43Gly) AR_00499 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 DNA SEQ - Substitution N-term - - somatic - cancer, prostate flutamide treated; genitalia normal sex of rearing M; 2 cases Canada:Montreal - - unknown - - - - 2
+/? 1 c.161T>C
    + c.2674T>C
1276T>C r.(?) p.(Leu54Ser) AR_00549 - Tilley et al. Clinical Cancer Res. 2: 277-285, 1996 DNA SEQ - Substitution N-term - - somatic - cancer, prostate genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
+/? 1 c.163_164insC 1278_1279insC r.(?) p.(Leu55fs*) AR_00353 - Philibert 2009 DNA SEQ - Insertion N-term - - germline (inherited) - androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - isolated (sporadic) - - - - 1
+/? 1 c.170T>A
    + c.172CAG[26], c.279G>Y, c.1351GGY[19], c.1769-?_1885+?dup, c.2623C>T
- r.(?) p.(Leu57Gln) AR_00411 - Chelnski et al. The Prostate 47: 66-75, 2001 DNA SEQ - Substitution N-term - - somatic - cancer, prostate (cell line, CWR22R) genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
+/? 1 c.170T>A 1285T>A r.(?) p.(Leu57Gln) AR_00411 - Tilley et al. Clinical Cancer Res. 2: 277-285, 1996 DNA SEQ - Substitution N-term - - somatic - cancer, prostate genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
+/? 1 c.170T>A 1285T>A r.(?) p.(Leu57Gln) AR_00411 - Yeh et al. Int J Cancer 120: 1610-1617, 2007 DNA SEQ - Substitution N-term - - somatic - cancer, liver genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
+/? 1 c.170_172del 1284_1286delCTG r.(?) p.(Leu57del) AR_00421 seminoma Garolla et al. Encdorine Related Cancer 12: 645-655, 2005 DNA SEQ - Deletion N-term - - somatic - cancer, testicular genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
+/? 1 c.170_172dup - r.(?) p.(Leu57dup) AR_00323 - Ferlin 2006 DNA SEQ - Duplication N-term - - germline (inherited) - MAIS male inferility; genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
?/? 1 c.172CAG[11]
    + c.312delC, c.1351GGY[25]
Gln12 r.(?) p.(Gln70_Gln80del) AR_00004k - Gottlieb 1999 DNA SEQ - deletion - - - germline (inherited) Bmax zero androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - isolated (sporadic) - - - - 1
?/? 1 c.172CAG[11]
    + c.2291A>G
Gln12 r.(?) p.(Gln70_Gln80del) AR_00004k - McPhaul et al.J Clin Inv 87: 1413,1991: Batch&al Arc Dis Ch 68: 453 1993 DNA SEQ - deletion - - - germline (inherited) Bmax normal; kD high; thermolabile androgen insensitivity syndrome, partial (PAIS) genitalia ambiguous sex of rearing M Canada:Montreal - - familial - - - - 1
?/? 1 c.172CAG[12]
    + c.1351GGY[18], c.1769-2A>C, c.1771A>G
Gln13 r.(?) p.(Gln71_Gln80del) AR_00004j - Audi 2010 DNA SEQ - deletion - - - germline (inherited) - androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - familial - - - - 1
?/? 1 c.172CAG[13]
    + c.1351GGY[17], c.1424C>T
Gln14 r.(?) p.(Gln72_Gln80del) AR_00004i - Zuccarello et al. Clin Endocrinol 68: 58-588, 2008 DNA SEQ - deletion - - - germline (inherited) - infertility, male low T, severe hypospematogenesis; genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
?/? 1 c.172CAG[13]
    + c.2567G>A
Gln14 r.(?) p.(Gln72_Gln80del) AR_00004i - Boehmer et al. Am J Hum Genetics 60: 1003-6, 1997 DNA SEQ - deletion - - - germline (inherited) - androgen insensitivity syndrome, partial (PAIS) genitalia ambiguous sex of rearing F; sister of 0301 Canada:Montreal - - familial - - - - 1
?/? 1 c.172CAG[13]
    + c.2567G>A
Gln14 r.(?) p.(Gln72_Gln80del) AR_00004i - Boehmer et al. Am J Hum Genetics 60: 1003-6, 1997 DNA SEQ - deletion - - - germline (inherited) - androgen insensitivity syndrome, partial (PAIS) genitalia ambiguous sex of rearing M; brother of 0302 Canada:Montreal - - familial - - - - 1
?/? 1 c.172CAG[14]
    + c.1351GGY[15], c.1443C>A
Gln15 r.(?) p.(Gln73_Gln80del) AR_00004h - Gottlieb 1999 DNA SEQ - deletion - - - germline (inherited) Bmax zero androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - unknown - - - - 1
?/? 1 c.172CAG[15]
    + c.2257C>T
Gln16 r.(?) p.(Gln74_Gln80del) AR_00004g - Melo 2003 DNA SEQ - deletion - - - germline (inherited) Bmax zero androgen insensitivity syndrome, complete (CAIS) testes in abdomen; genitalia normal sex of rearing F Canada:Montreal - - familial - - - - 1
?/? 1 c.172CAG[15]
    + c.667G>C
Gln16 r.(?) p.(Gln74_Gln80del) AR_00004g - Chen et al. The Prostate 63: 395-406, 2005 DNA SEQ - deletion - - - somatic Bmax normal; kD normal cancer, prostate increased response to DHT ; genitalia normal sex of rearing M Canada:Montreal - - isolated (sporadic) - - - - 1
?/? 1 c.172CAG[15]
    + c.431G>T
Gln16 r.(?) p.(Gln74_Gln80del) AR_00004g - Chen et al. The Prostate 63: 395-406, 2005 DNA SEQ - deletion - - - somatic Bmax normal; kD normal cancer, prostate increased response to DHT ; genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
?/? 1 c.172CAG[16]
    + c.1139C>G, c.1351GGY[18]
Gln17 r.(?) p.(Gln75_Gln80del) AR_00004f - Audi 2010 DNA SEQ - deletion - - - germline (inherited) - androgen insensitivity syndrome, partial (PAIS) genitalia ambiguous sex of rearing M; prenatal diagnosis Canada:Montreal - - isolated (sporadic) - - - - 1
?/? 1 c.172CAG[17]
    + c.1351GGY[14], c.2668G>A
Gln18 r.(?) p.(Gln76_Gln80del) AR_00004e - Audi 2010 DNA SEQ - deletion - - - germline (inherited) - androgen insensitivity syndrome, partial (PAIS) genitalia ambiguous sex of rearing M Canada:Montreal - - isolated (sporadic) - - - - 1
?/? 1 c.172CAG[17]
    + c.1351GGY[17], c.2567G>A
Gln18 r.(?) p.(Gln76_Gln80del) AR_00004e - Audi 2010 DNA SEQ - deletion - - - germline (inherited) - androgen insensitivity syndrome, partial (PAIS) genitalia ambiguous sex of rearing F; affected sister and mother, 2 aunts heterozygote carriers Canada:Montreal - - familial - - - - 3
?/? 1 c.172CAG[17]
    + c.663delC, c.1351GGY[17]
Gln18 r.(?) p.(Gln76_Gln80del) AR_00004e - Audi 2010 DNA SEQ - deletion - - - germline (inherited) Bmax zero; kD zero androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - isolated (sporadic) - - - - 1
?/? 1 c.172CAG[17]
    + c.1351GGY[18], c.2117A>G
Gln18 r.(?) p.(Gln76_Gln80del) AR_00004e - Audi 2010 DNA SEQ - deletion - - - germline (inherited) Bmax zero; kD zero androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - isolated (sporadic) - - - - 1
?/? 1i c.172CAG[17]
    + c.(?_-1115)_6161+?del
Gln18 r.(?) p.(Gln76_Gln80del) AR_00004 - Schoenberg et al. Biochem Biophys Res Comm 198: 74-80 1994 DNA SEQ - deletion - - - somatic - cancer, prostate genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
?/? 1i c.172CAG[17]
    + c.(?_-1115)_6161+?del
Gln18 r.(?) p.(Gln76_Gln80del) AR_00004 - Wallin et al. J Pathology 189: 559-653, 1999 DNA SEQ - deletion - - - somatic - cancer, prostate genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
?/? 1 c.172CAG[18]
    + c.1351GGY[17], c.1424C>T
Gln19 r.(?) p.(Gln77_Gln80del) AR_00004d - Zuccarello et al. Clin Endocrinol 68: 58-588, 2008 DNA SEQ - deletion - - - germline (inherited) - infertility, male normal T, left cryptorchidism; genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
?/? 1 c.172CAG[18]
    + c.639G>A, c.1351GGY[24]
Gln19 r.(?) p.(Gln77_Gln80del) AR_00004d - Gottlieb 1999 DNA SEQ - deletion - - - germline (inherited) Bmax normal; kD high androgen insensitivity syndrome, partial (PAIS) genitalia ambiguous sex of rearing M Canada:Montreal - - familial - - - - 1
?/? 1 c.172CAG[19]
    + c.639G>A, c.1175C>G, c.1334A>G, c.1351GGY[24]
Gln20 r.(?) p.(Gln78_Gln80del) AR_00004c - Gottlieb 1999 DNA SEQ - deletion - - - germline (inherited) Bmax zero androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - familial - - - - 1
?/? 1 c.172CAG[19]
    + c.39_42dup, c.1351GGY[9]
Gln20 r.(?) p.(Gln78_Gln80del) AR_00004c - Audi 2010 DNA SEQ - deletion - - - germline (inherited) - androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - familial - - - - 1
?/? 1 c.172CAG[19]
    + c.639G>A, c.1351GGY[16]
Gln20 r.(?) p.(Gln78_Gln80del) AR_00004c - Gottlieb 1999 DNA SEQ - deletion - - - germline (inherited) Bmax normal; kD high MAIS genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
?/? 1 c.172CAG[19]
    + c.?, c.1351GGY[18]
Gln20 r.(?) p.(Gln78_Gln80del) AR_00004c - Audi 2010 DNA SEQ - deletion - - - germline (inherited) Bmax zero; kD zero androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - familial - - - - 1
?/? 1 c.172CAG[19]
    + c.256C>T
Gln20 r.(?) p.(Gln78_Gln80del) AR_00004c - Audi 2010 DNA SEQ - deletion - - - germline (inherited) Bmax low; kD high androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - familial - - - - 1
?/? 1 c.172CAG[20]
    + c.1041_1042del, c.1351GGY[17]
Gln21 r.(?) p.(Gln79_Gln80del) AR_00004b - Audi 2010 DNA SEQ - deletion - - - germline (inherited) - androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - isolated (sporadic) - - - - 1
?/? 1 c.172CAG[20]
    + c.240dupA, c.1351GGY[18]
Gln21 r.(?) p.(Gln79_Gln80del) AR_00004b - Audi 2010 DNA SEQ - deletion - - - germline (inherited) - androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - familial - - - - 1
?/? 1 c.172CAG[20]
    + c.720dupT, c.1351GGY[18]
Gln21 r.(?) p.(Gln79_Gln80del) AR_00004b - Audi 2010 DNA SEQ - deletion - - - germline (inherited) - androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - isolated (sporadic) - - - - 1
?/? 1 c.172CAG[20]
    + c.639G>A
Gln21 r.(?) p.(Gln79_Gln80del) AR_00004b - Gottlieb 1999 DNA SEQ - deletion - - - germline (inherited) Bmax normal; kD normal androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - isolated (sporadic) - - - - 1
?/? 1 c.172CAG[20]
    + c.1063G>T
Gln21 r.(?) p.(Gln79_Gln80del) AR_00004b - Gottlieb 1999 DNA SEQ - deletion - - - germline (inherited) Bmax low androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - isolated (sporadic) - - - - 1
?/? 1 c.172CAG[20]
    + c.1351GGY[28], c.1421_1422del
Gln21 r.(?) p.(Gln79_Gln80del) AR_00004b - Holterhus 2005b DNA SEQ - deletion - - - germline (inherited) Bmax zero androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - unknown - - - - 1
?/? 1 c.172CAG[21]
    + c.1351GGY[17], c.1363G>A, c.1715A>G
Gln22 r.(?) p.(Gln80del) AR_00004a - Audi 2010 DNA SEQ - deletion - - - germline (inherited) - androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F; sister and 2 aunts affected Canada:Montreal - - familial - - - - 4
?/? 1 c.172CAG[21]
    + c.1174C>T, c.1351GGY[19]
Gln22 r.(?) p.(Gln80del) AR_00004a - Audi 2010 DNA SEQ - deletion - - - germline (inherited) Bmax normal; kD normal androgen insensitivity syndrome, partial (PAIS) genitalia ambiguous sex of rearing M Canada:Montreal - - isolated (sporadic) - - - - 1
?/? 1 c.172CAG[21]
    + c.639G>A, c.1351GGY[24]
Gln22 r.(?) p.(Gln80del) AR_00004a - Gottlieb 1999 DNA SEQ - deletion - - - germline (inherited) Bmax v low androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - unknown - - - - 1
?/? 1i c.172CAG[21]
    + c.(?_-1115)_6161+?del
Gln22 r.(?) p.(Gln80del) AR_00004 - Watanabe et al. Jpn J Clin Oncol 27: 389-393, 1997 DNA SEQ - deletion - - - somatic - cancer, prostate genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
?/? 1i c.172CAG[21]
    + c.(?_-1115)_6161+?del
Gln22 r.(?) p.(Gln80del) AR_00004 - Watanabe et al. Jpn J Clin Oncol 27: 389-393, 1997 DNA SEQ - deletion - - - somatic - cancer, prostate genitalia normal sex of rearing M; 2 different patients Canada:Montreal - - unknown - - - - 2
?/? 1 c.172CAG[23]
    + c.1351GGY[17], c.1424C>T
Gln24 r.(?) p.(Gln80dup) AR_00004m - Zuccarello et al. Clin Endocrinol 68: 58-588, 2008 DNA SEQ - duplication - - - germline (inherited) - infertility, male normal T; genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
?/? 1 c.172CAG[23]
    + c.1351GGY[22], c.1421_1422del
Gln24 r.(?) p.(Gln80dup) AR_00004m - Thiele et al. J Clin Endocrinol Metab 84: 1751-1753. 1999 DNA SEQ - duplication - - - germline (inherited) - androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - unknown - - - - 1
?/? 1i c.172CAG[23]
    + c.1616+2dupT
Gln24 r.(?) p.(Gln80dup) AR_00004 - Trifiro et al. Eur J Hum Genetics 5: 50-58, 1997 DNA SEQ - duplication - - - germline (inherited) - androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - unknown - - - - 1
?/? 1 c.172CAG[24]
    + c.343C>T, c.1351GGY[27]
Gln25 r.(?) p.(Gln79_Gln80dup) AR_00004n - Gottlieb 1999 DNA SEQ - duplication - - - germline (inherited) - androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - unknown - - - - 1
?/? 1 c.172CAG[24]
    + c.257dupA
Gln25 r.(?) p.(Gln79_Gln80dup) AR_00004n - Gottlieb 1999 DNA SEQ - duplication - - - germline (inherited) Bmax zero androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - unknown - - - - 1
?/? 1 c.172CAG[24]
    + c.362C>A
Gln25 r.(?) p.(Gln79_Gln80dup) AR_00004n - Melo 2003 DNA SEQ - duplication - - - germline (inherited) - androgen insensitivity syndrome, complete (CAIS) gonads located in inguinal canal; genitalia normal sex of rearing F; same family as 0830 Canada:Montreal - - familial - - - - 1
?/? 1 c.172CAG[25]
    + c.521T>G, c.1351GGY[24]
Gln26 r.(?) p.(Gln78_Gln80dup) AR_00004o - Gottlieb 1999 DNA SEQ - duplication - - - germline (inherited) Bmax zero androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - isolated (sporadic) - - - - 1
?/? 1 c.172CAG[25]
    + c.1351GGY[26], c.1421_1422del
Gln26 r.(?) p.(Gln78_Gln80dup) AR_00004o - Gottlieb 1999 DNA SEQ - duplication - - - germline (inherited) Bmax zero androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - unknown - - - - 1
?/? 1 c.172CAG[26]
    + c.170T>A, c.279G>Y, c.1351GGY[19], c.1769-?_1885+?dup, c.2623C>T
Gln27 r.(?) p.(Gln77_Gln80dup) AR_00004p - Chelnski et al. The Prostate 47: 66-75, 2001 DNA SEQ - duplication - - - somatic - cancer, prostate (cell line, CWR22R) genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
?/? 1 c.172CAG[26]
    + c.4G>A, c.1351GGY[13]
Gln27 r.(?) p.(Gln77_Gln80dup) AR_00004p - Audi 2010 DNA SEQ - duplication - - - germline (inherited) Bmax low; kD high androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F; mother heterozygous Canada:Montreal - - familial - - - - 2
?/? 1 c.172CAG[26]
    + c.646G>A
Gln27 r.(?) p.(Gln77_Gln80dup) AR_00004p - Wang 1998 DNA SEQ - duplication - - - germline (inherited) Bmax normal; kD normal; k normal MAIS severe oligospermia; genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
?/? 1 c.172CAG[27]
    + c.1213C>T
Gln28 r.(?) p.(Gln76_Gln80dup) AR_00004q - Gottlieb 1999 DNA SEQ - duplication - - - germline (inherited) Bmax zero androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - unknown - - - - 1
?/? 1i c.172CAG[7]
    + c.(?_-1115)_6161+?del
Gln8 r.(?) p.(Gln66_Gln80del) AR_00374 - Kooy et al. Am J Med Genet 85: 389-393. 1999 DNA SEQ - deletion - - - germline (inherited) Bmax normal; kD normal mental retardation genitalia normal sex of rearing M; 3 affected siblings Canada:Montreal - - familial - - - MR 3
+/? 1 c.173A>T
    + c.685_686delinsTG, c.758C>T, c.1304G>T
- r.(?) p.(Gln58Leu) AR_00267 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 DNA SEQ - Insertion/Deletion N-term - - somatic - cancer, prostate flutamide treated; genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
+/? 1 c.173A>T
    + c.271_273del, c.758C>T, c.1363G>A
- r.(?) p.(Gln58Leu) AR_00267 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 DNA SEQ - Substitution N-term - - somatic - cancer, prostate bicalutamide treated; genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
+/? 1 c.173A>T
    + c.271_273del, c.784C>T, c.1783C>A, c.1998A>Y
- r.(?) p.(Gln58Leu) AR_00267 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 DNA SEQ - Substitution DBD - - somatic - cancer, prostate bical treated; genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
?/? 1 c.173A>T
    + c.271_273del, c.1319C>T, c.1370G>A
- r.(?) p.(Gln58Leu) AR_00267 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 DNA SEQ - Substitution N-term - - somatic - cancer, prostate genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
+/? 1 c.173A>T
    + c.271_273del, c.1318A>C
- r.(?) p.(Gln58Leu) AR_00267 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 DNA SEQ - Deletion N-term - - somatic - cancer, prostate flutamide treated; genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
+/? 1 c.173A>T 1288A>T r.(?) p.(Gln58Leu) AR_00267 - Lund 2003 DNA SEQ - Substitution N-term - - germline (inherited) - male infertility genitalia normal sex of rearing M; 2/62 patients with male infertility Canada:Montreal - - unknown - - - - 2
+/? 1 c.175C>T 1291C>T r.(?) p.(Gln59*) AR_00308 - Holterhus 2005b DNA SEQ - Substitution N-term - - germline (inherited) Bmax zero androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - unknown - - - - 1
+/+ 1 c.178C>T 1293C>T r.(?) p.(Gln60*) AR_00115 normal upregulation Zoppi 1993 DNA SEQ - Substitution N-term - - germline (inherited) Bmax low; kD normal; k high androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - isolated (sporadic) - - - - 1
+/+ 1 c.178C>T 1293C>T r.(?) p.(Gln60*) AR_00115 - Bouvattier 2002 DNA SEQ - Substitution N-term - - germline (inherited) - androgen insensitivity syndrome, complete (CAIS) bilateral inguinal hernia; genitalia normal sex of rearing F Canada:Montreal - - unknown - - - - 1
+/? 1 c.179dupA 1294dupA r.(?) p.(Gln60fs*) AR_00576 either 1 nt insert or 2 nt del Zhu et al. J Clin Endocrinol Metab 84: 1590-1594, 1999 DNA SEQ - Duplication N-term - - germline (inherited) - androgen insensitivity syndrome, complete (CAIS) genitalia normal sex of rearing F Canada:Montreal - - unknown - - - - 1
+/? 1 c.188A>G
    + c.2492T>C
1303A>G r.(?) p.(Gln64Arg) AR_00551 - Tilley et al. Clinical Cancer Res. 2: 277-285, 1996 DNA SEQ - Substitution N-term - - somatic - cancer, prostate genitalia normal sex of rearing M Canada:Montreal - - unknown - - - - 1
+/? 1 c.196C>T 1311C>T r.(?) p.(Gln67*) AR_00335 - Cheikhelard 2008 DNA SEQ - Substitution N-term - - germline (inherited) - androgen insensitivity syndrome, complete (CAIS) 18y-bilateral gonadectomy; genitalia normal sex of rearing F Canada:Montreal - - unknown - - 1m - 1
+/? 1 c.199C>T - r.(?) p.(Gln67*) AR_00336 - Cheikhelard 2008 DNA SEQ - - - - - germline (inherited) - androgen insensitivity syndrome - - Raymond:Cambridge - - unknown - - - - 1
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Legend: [ AR full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9 DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Var_pub_as: What the variant was reported as. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. AR DB-ID: BD-ID = database IDentifier Variant remarks: Variant remarks Reference: Reference = reference to publication describing variant Template: Detection_Template Technique: Technique CpG: CpG-site = variant at CpG site Type: Type of variant at DNA level. Location: Variant location Frequency: Frequency if variant is non pathogenic. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Genetic origin: origin of variant; unknown, germline (i.e. inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) when tested for functional consequences Protein/Activity: Protein/Activity Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Phenotype additional: Phenotype, additional features Remarks: Remarks Reference: Reference describing the phenotype Geographic origin: Geographic origin of patient Ethnic origin: Ethnic origin of patient Inheritance: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) Consang.: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Age_exam: age at which the individual was examined; 4y8m = 4 years and 8 months Age_onset: age at which the disease became evident; 4y8m = 4 years and 8 months MR: MR # Reported: Number of times this case has been reported