LOVD - Variant listings for ATP7A

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+/+? - c.-160u-646?_-160u-548?del - - - - - ATP7A_00001 Levinson 1996 Deletion of one of the three 98-bp tandem repeats in the promoter region; ormal levels with qRT-PCR. No effect on the site of transcription initiation, termination, splicing. SEQ RNA OHS Denmark:Glostrup - 1 - - - - OHS - -
+/+? - c.? 46,XX/45,X (13/16) - - - - ATP7A_00254 Gerdes 1990 - Karyotyping - Menkes disease Denmark:Glostrup - 1 - - - - - - -
+/+? - c.? 46,X,t(X;2)(q13;q32.2)de novo - - - - ATP7A_00255 Kapur 1987; Verga 1991; Tümer 1992b - Karyotyping, FISH Chromosome Menkes disease Denmark:Glostrup - 1 - - - alive 11mo Classical - -
+/+? - c.? 46,XY,ins(X)(p11.4q13.3q21.2)mat - - - - ATP7A_00256 Tümer 1992a - Karyotyping, FISH Chromosome Menkes disease Denmark:Glostrup - 1 - - - 19mo Classical - maternal
+/+? - c.? 46,X,t(X;1)(q13;q12)de novo - - - - ATP7A_00257 Beck 1994 - Karyotyping, FISH Chromosome Menkes disease Denmark:Glostrup - 1 - - - alive 12mo Classical Cu treatment -
+/+? - c.? 46,X,t(X;21)(q13.3;p11.1)de novo - - - - ATP7A_00258 Sugio 1998 - Karyotyping, FISH Chromosome Menkes disease Denmark:Glostrup - 1 - - - alive 4yr 8mo Classical - -
+/+? - c.? 46,X,t(X;13)(q13.3;q14.3)de novo - - - - ATP7A_00259 Abusaad 1999 - Karyotyping, FISH Chromosome Menkes disease Denmark:Glostrup - 1 - - - 18mo Classical - -
+/+? - c.? 46,X,t(X;16)(q13.3;p11.2)de novo - - - - ATP7A_00260 Sirleto 2009 - Karyotyping, FISH Chromosome Menkes disease Denmark:Glostrup - 1 - - - alive 2yr 2mo Classical - -
-/-? - c.? ins -1157C - - - - ATP7A_00261 Gu 2001 - - - - Denmark:Glostrup - 1 - - - - - - -
-/-? - c.? -1099--1098GT>AG - - - - ATP7A_00262 Gu 2001 - - - - Denmark:Glostrup - 1 - - - - - - -
-/-? - c.? -1040--1039CC>AA - - - - ATP7A_00263 Gu 2001 - - - - Denmark:Glostrup - 1 - - - - - - -
-/-? - c.? -1033A>C - - - - ATP7A_00264 Gu 2001 - - - - Denmark:Glostrup - 1 - - - - - - -
-/-? - c.? -1030A>C - - - - ATP7A_00265 Gu 2001 - - - - Denmark:Glostrup - 1 - - - - - - -
-/-? - c.? del -971--970CC - - - - ATP7A_00266 Gu 2001 - - - - Denmark:Glostrup - 1 - - - - - - -
-/-? - c.? del -934--932GGG - - - - ATP7A_00267 Gu 2001 - - - - Denmark:Glostrup - 1 - - - - - - -
-/-? - c.? del -927T - - - - ATP7A_00268 Gu 2001 - - - - Denmark:Glostrup - 1 - - - - - - -
-/-? - c.? del -921A - - - - ATP7A_00269 Gu 2001 - - - - Denmark:Glostrup - 1 - - - - - - -
-/-? - c.? ins -881C - - - - ATP7A_00270 Gu 2001 - - - - Denmark:Glostrup - 1 - - - - - - -
-/-? - c.? -842--847GC>CG - - - - ATP7A_00271 Gu 2001 - - - - Denmark:Glostrup - 1 - - - - - - -
-/-? - c.? -660--659GG>AA - - - - ATP7A_00272 Gu 2001 - - - - Denmark:Glostrup - 1 - - - - - - -
-/-? - c.? -192G>A - - - - ATP7A_00273 Gu 2001 - - - - Denmark:Glostrup - 1 - - - - - - -
-/-? - c.? del -136T - - - - ATP7A_00274 Gu 2001 - - - - Denmark:Glostrup - 1 - - - - - - -
-/-? - c.? -45G>G or T - - - - ATP7A_00275 Gu 2001 - - - - Denmark:Glostrup - 1 - - - - - - -
?/? - c.2406+1117A>G
    + c.2916+2408T>G, c.3294+763C>G
- r.2406_2407ins2406+1015_2406+1112 - - - ATP7A_00345 - - - - OHS Yasmeen S. , Denmark:Glostrup - 1 Male - - - OHS - -
?/? - c.2916+2408T>G
    + c.2406+1117A>G, c.3294+763C>G
- - - - - ATP7A_00346 - - - - OHS Yasmeen S. , Denmark:Glostrup - 1 Male - - - OHS - -
?/? - c.3294+763C>G
    + c.2406+1117A>G, c.2916+2408T>G
- - - - - ATP7A_00347 - - - - OHS Yasmeen S. , Denmark:Glostrup - 1 Male - - - OHS - -
+/+? 1 c.-160-?_-22+?del c.-22-?del - - - - ATP7A_00206 Tümer 2003 - Southern, PCR, PCRm DNA Menkes disease Denmark:Glostrup - 1 - - - 14yr Mild Cu treatment Single case
+/+? 1 c.-160-?_-22+?del c.-22-?del - - - - ATP7A_00206 Tümer 2003, Moller 2012 - Southern, PCR, PCRm DNA Menkes disease Denmark:Glostrup - 1 - - - 2yr 1.5mo Classical - Single case
+/+? 1 c.-160-?_-22+?del c.-22-?del - - - - ATP7A_00206 Tümer 2003 - PCR, PCRm DNA Menkes disease Denmark:Glostrup - 1 - - - Alive 8mo Classical - Single case
+/+? 1 c.-160-?_-22+?del del ex1 - - - - ATP7A_00206 Kaler 2008, Kaler 2010 - - - Menkes disease Denmark:Glostrup - 2 - - - alive 8.6yr; brother died 7yr Brother Classical LS Cu treatment from day14, severe delays; brother not treated Familial
+/+? 1 c.-160-?_-22+?del - - - - - ATP7A_00206 Moizard 2010 - PCR DNA Menkes disease Denmark:Glostrup - 1 - - - - Classical - -
+/+? 1 c.(-160?_-22?del) 1.8 kb deletion including exon 1 and promoter region. Reduced levels of transcript - - - - ATP7A_00297 Levinson 1994, Mercer 1994, Levinson 1997, Cunliffe 2001 Mouse model - - mottled dappled Denmark:Glostrup - 1 - - - Die in utero bending and thickening of the ribs, and distortion of the pectoral and pelvic girdles and limb bones - Radiation induced
-/-? 1 c.-55T>C 91T>C - - - - ATP7A_00279 Tumer unpublished, Gu 2001, Watanabe 2005 - - - - Denmark:Glostrup - 1 - - - - - - -
+/+? 02_06 c.-21-?_1707+?del c.1-?_1707+?del - - - - ATP7A_00207 Tümer 1994b, Tümer 2003 - Southern, PCR, PCRm DNA Menkes disease Denmark:Glostrup - 2 - - - 1yr 10mo Classical - Single case
+/+? 02_06 c.-21-?_1707+?del c.1-?_1707+?del - - - - ATP7A_00207 Tümer 2003 - PCR, PCRm DNA Menkes disease Denmark:Glostrup - 1 - - - 7.5mo Classical - Single case
+/+? 02_06 c.-21-?_1707+?del c.1-?_1707+?del - - - - ATP7A_00207 Tümer 2003 - PCR, PCRm, DNA Menkes disease Denmark:Glostrup - 1 - - - <2yr 4mo Classical - Single case
+/+? 02_09 c.-21-?_2172+?del c.1-?_2172+?del - - - - ATP7A_00208 Tümer 2003 - Southern, PCR, PCRm DNA - Denmark:Glostrup - 1 - - - 3yr 8mo Classical - Single case
+/+? 02_14 c.-21-?_2916+?del c.1-?_2916+?del r.1_3111del - - - ATP7A_00209 Tümer 2003 - PCR, PCRm, RT-PCR, SEQ DNA, RNA Menkes disease Denmark:Glostrup - 1 - - - Alive 2yr 4mo Classical - Single case
+/+? 02_14 c.-21-?_2916+?dup r.-21_2916dup - - - - ATP7A_00203 Moizard 2010 cDNA fragment joining exons 2 to 14 PCR DNA, RNA Menkes disease Denmark:Glostrup - 1 - - - - Classical - familial
+/+? 02_15 c.-21-?_3111+?del c.1-?_3111+?del r.1_3096delins44 - - - ATP7A_00210 Tümer 2003 - Southern, PCR, PCRm, RT-PCR, SEQ DNA/RNA Menkes disease Denmark:Glostrup - 1 - - - 4mo Classical - Familial
+/+? 02_17 c.-21-?_3511+?del c.1-?_3511+?del - - - - ATP7A_00211 Tümer 2003 - PCR, PCRm DNA Menkes disease Denmark:Glostrup - 1 - - - 1yr 11mo Classical - Single case
+/+? 02_18 c.-21-?_3658+?del - - - - - ATP7A_00212 Moizard 2010 - PCR DNA Menkes disease Denmark:Glostrup - 1 - - - - Classical - Familial
-/-? 02i c.121-796GT(16_25) (CA)A in intron 2 - p.= - - ATP7A_00280 Beggy 1995 6 observed (GT) alleles, n= 16, 20, 21, 22, 23, 25 - - - Denmark:Glostrup - 1 - - - - - - -
-/-? i2i c.2626+7G>T IVS12+7G>T - p.= - - ATP7A_00290 Hahn 2001 - - - - Denmark:Glostrup - 1 - - - - - - -
+/+? 03_04 c.121-?_1336+?del - r.121_1336del - - - ATP7A_00213 Tümer 2003, Poulsen 2000b, Paulsen 2006 Translation reinitiation. frame shift Southern, PCR DNA, RNA Menkes disease Denmark:Glostrup - 3 - - - Alive 27yr; 24yr Moderate - Familial
+/+? 03_04 c.121-?_1336+?del - - - - - ATP7A_00213 Tümer 2003 frame shift Southern, PCR DNA Menkes disease Denmark:Glostrup - 1 - - - 7yr Classical - Single case
+/+? 03_04 c.121-?_1336+?dup - wild-type; r.121_1336dup; r.611_1336dup - - - ATP7A_00316 Mogensen 2011 wild-type; r.121_1336dup (ex3-4, frame shift); r.611_1336dup (ex5, in-frame) MLPA, SEQ DNA, RNA Menkes disease Denmark:Glostrup - 1 - - - - OHS - -
+/+? 03_5 c.121-?_1543+?dup - r.121_1543dup p.(Gly515Glyfs*13) - - ATP7A_00202 Moizard 2010 cDNA fragment joining exons 2 to 5 PCR DNA, RNA Menkes disease Denmark:Glostrup - 1 - - - - Classical - familial
+/+? 03_05 c.121-?_1543+?dup - wild type; r.121_1543dup; r.1337_1543dup - - - ATP7A_00202 Mogensen 2011 wild type; r.121_1543dup (ex3-5, frame shift); r.1337_1543dup (ex5, in-frame) MLPA, SEQ DNA, RNA Menkes disease Denmark:Glostrup - 1 - - - - Classical - -
+/+? 03_10 c.121-?_2406+?del - - - - - ATP7A_00214 Tümer 2003 in-frame Southern, PCR, PCRm DNA Menkes disease Denmark:Glostrup - 1 - - - 7mo Classical - Familial
+/+? 03_10 c.121-?_2406+?del - - - - - ATP7A_00214 Tümer 2003 in-frame Southern, PCR DNA Menkes disease Denmark:Glostrup - 1 - - - 3mo Classical - Familial
+/+? 03_13 c.121-?_2781+?dup - - - - - ATP7A_00322 Mogensen 2011 - MLPA, SEQ DNA Menkes disease Denmark:Glostrup - 1 - - - - Classical - mother carrier
+/+? 03_16 c.121-?_3294+?del - r.121_3294del - - - ATP7A_00215 Tümer 2003 in-frame Southern, PCR, RT-PCR, SEQ DNA/RNA Menkes disease Denmark:Glostrup - 1 - - - 2yr 2mo Classical - Single case
+/+? 03_17 c.121-?_3511+?dup - - - - - ATP7A_00323 Mogensen 2011 - MLPA, SEQ DNA Menkes disease Denmark:Glostrup - 1 - - - - Classical - de novo
+/+? 03_20 c.121-?_4005+?del - - p.(Val41_Arg1335del - - ATP7A_00216 Moizard 2010 - PCR DNA Menkes disease Denmark:Glostrup - 1 - - - - Classical - Familial
+/+? 03_23 c.121-?_8333+?del - - - - - ATP7A_00217 Tümer 1994b, Tümer 2003 - Southern, PCR, PCRm DNA/RNA Menkes disease Denmark:Glostrup - 2 - - - 1yr 2mo Classical - Single case
+/+? 03_23 c.121-?_8333+?del - - - - - ATP7A_00217 Tümer 2003 - Southern, PCR, PCRm DNA Menkes disease Denmark:Glostrup - 1 - - - 18yr Classical - Single case
+/+? 03_23 c.121-?_8333+?del - - - - - ATP7A_00217 Tümer 2003 - PCR, PCRm DNA Menkes disease Denmark:Glostrup - 1 - - - 8mo Classical - Single case
+/+? 03_23 c.121-?_8333+?del - - - - - ATP7A_00217 Tümer 2003 - PCR, PCRm DNA Menkes disease Denmark:Glostrup - 1 - - - - Classical - -
-/-? 3 c.327G>A 472G>A (K109K) - p.(Lys109Lys) - - ATP7A_00281 Poulsen 2002a - - - - Denmark:Glostrup - 1 - - - - - - -
-?/? 3 c.327G>A K109K r.(?) p.= - - ATP7A_00281 Tarpey 2009 recurrent, found 2 times; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) SEQ DNA MRX Denmark:Glostrup - 1 - - - - - - -
+/+? 3 c.408_415delCAATCAGA - r.408_415delCAATCAGA - - - ATP7A_00002 Gerard-Blanluet 2004 Normal size (frame shift) SEQ DNA, RNA Menkes disease Denmark:Glostrup - 1 - - - Alive 5yr Classical, horns at 2.5y - -
+/+? 3 c.499C>T C644>T - p.(Gln167*) - - ATP7A_00055 Das 1994 Bell 2011 Decreased level with NB SEQ RNA Menkes disease Denmark:Glostrup - 1 - - - <3yr Classical - Single case
+/+? 3 c.499C>T 644C>T (Q167X) - p.(Gln167*) - - ATP7A_00055 Gu 2001 - SEQ DNA Menkes disease Denmark:Glostrup - 1 - - - - Classical - -
+/+? 3 c.521delA - - p.(Lys174Argfs*2) - - ATP7A_00003 Tümer 2011 - SEQ DNA Menkes disease Denmark:Glostrup - 1 - - - 7yr CS IV+oral Cu -
+/+? 3 c.526_529dupAAAG 177insAAG - - - - ATP7A_00004 Tümer 1997 - SEQ DNA Menkes disease Denmark:Glostrup - 1 - - - 3yr 1mo Classical - -
+/+? 3 c.532G>T - - p.(Glu178X) - - ATP7A_00056 Moller 2012 Affected females in the family SEQ DNA Menkes disease Denmark:Glostrup - 1 - - - 7yr 6mo CS - familial
+/+? 3 c.589C>T Q197X - p.(Gln197*) - - ATP7A_00057 Kaler 2010 Mutation not described at sequence level in the manuscript SEQ - Menkes disease Denmark:Glostrup - 1 - - - Alive 2yr 7mo - Cu treatment from day 7, moderate delay -
+/+? 3 c.601C>T nucleotide 746 CGA>UGA - p.(Arg201*) - - ATP7A_00058 Kaler 2009, Kaler 2010 read-through translation (nonsense suppression). Small amounts of full-length protein. SEQ - Menkes disease Denmark:Glostrup - 2 - - - Index alive 11.5yr; a sibling died 6 mo Sibling Classical Index Cu treatment 8 days>3years, normal development, occipital horns 11.5yr Familial
-/-? 4 c.? 1152T>A - p.(Val336Glu) - - ATP7A_00276 Hahn 2001 - - - - Denmark:Glostrup - 1 - - - - - - -
+/+? 4 c.611-?_1336+?del - - - - - ATP7A_00218 Tümer 2003 in-frame PCR, PCRm DNA Menkes disease Denmark:Glostrup - 1 - - - - Classical - Familial
+/+? 4 c.657_661delTATCT ATCTT deletion from 798-802 r.657_661delTATCT - - - ATP7A_00005 Das 1994 Frame shift. Decreased mRNA level with NB SEQ RNA Menkes disease Denmark:Glostrup - 1 - - - 8mo Classical - -
+/+? 4 c.659_663delTCTCA ATCTC deletion from 803-807 r.659_663delTCTCA - - - ATP7A_00006 Das 1994, Vulpe 1993 Frame shift. Decreased mRNA level with NB SEQ RNA Menkes disease Denmark:Glostrup - 1 - - - 12yr Classical Cu treatment Single case
+/+? 4 c.659_666delTCTCAGTA - - p.(Ile220Argfs*8) - - ATP7A_00007 Tümer 2011 - SEQ DNA Menkes disease Denmark:Glostrup - 1 - - - alive 11yr CS IV+oral Cu -
+/+? 4 c.693delT - - p.(Met232Trpfs*21) - - ATP7A_00008 Tümer 2011 - SEQ DNA Menkes disease Denmark:Glostrup - 1 - - - >9yr CS Cu therapy -
+/+? 4 c.721C>T - r.611_1336del726 p.(Gln241*) - - ATP7A_00059 Moizard 2010 Skips Ex4 (in-frame) SEQ DNA, RNA Menkes disease Denmark:Glostrup - 1 - - - - Classical - Familial
+/+? 4 c.890delG Del G in codon 297 r.890delG - - - ATP7A_00009 Tümer 1996, George and Casey 2001 Normal size (frame shift) SEQ DNA, RNA Menkes disease Denmark:Glostrup - 1 - - - 10yr 3mo - Cu treatment Single case
?/? 4 c.1009G>A A337T r.(?) p.(Ala337Thr) - - ATP7A_00312 Tarpey 2009 found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) SEQ DNA MRX Denmark:Glostrup - 1 - - - - - - -
+/+? 4 c.1028dupA 1173 ins A - - - - ATP7A_00010 Ogawa 1999 - SEQ DNA Menkes disease Denmark:Glostrup - 1 - - - 9yr Classical - -
+/+? 4 c.1135delA 379delA - - - - ATP7A_00011 Tümer 1997 - SEQ DNA Menkes disease Denmark:Glostrup - 1 - - - 1yr 5mo Classical - Familial
+/+? 4 c.1189_1192delGGTG - - p.(Gly397Serfs*8) - - ATP7A_00012 Tümer 2011 - SEQ DNA Menkes disease Denmark:Glostrup - 1 - - - alive 9yr CS IV+oral Cu -
+/+? 4 c.1225C>T Arg409Ter (CGA>TGA) - p.(Arg409*) - - ATP7A_00060 Tümer 1997 - SEQ DNA Menkes disease Denmark:Glostrup - 1 - - - 1yr 6mo Classical - Single case
+/+? 4 c.1225C>T - - p.(Arg409X) - - ATP7A_00060 Tümer 2011 - SEQ DNA Menkes disease Denmark:Glostrup - 1 - - - 5yr 6mo CS - -
+/+? 4 c.1225C>T - - p.(Arg409X) - - ATP7A_00060 Tümer 2011 - SEQ DNA Menkes disease Denmark:Glostrup - 1 - - - 1yr 5mo CS - -
+/+? 4 c.1234delC 412delC - - - - ATP7A_00013 Tümer 1997 - SEQ DNA Menkes disease Denmark:Glostrup - 1 - - - 10mo Classical - Familial
-/-? 4 c.1299A>T 1444A>T (G433G) - p.(Glu433Glu) - - ATP7A_00282 Gu 2001 - - - - Denmark:Glostrup - 1 - - - - - - -
+/+? 4 c.1329delC 1474delC - - - - ATP7A_00315 Gu 2012 - - - Menkes disease Denmark:Glostrup - 1 - - - 22.5mo Classical - -
+/+? 05_06 c.1337-?_1707+?dup - wild type; r.1337_1707dup - - - ATP7A_00317 Mogensen 2011 r.1337_1707dup (frame shift); r.= (wild-type) MLPA, SEQ DNA, RNA Menkes disease Denmark:Glostrup - 1 - - - - Atypical - de novo
+/+? 05_07 c.1337-?_1869+?del - r.1337_1869del ; r.1337_1946del - - - ATP7A_00219 Tümer 2003 r.1337_1869del (frame shift); r.1337_1946del (frame shift) Southern, PCR, PCRm, RT-PCR, SEQ DNA/RNA Menkes disease Denmark:Glostrup - 1 - - - 6.5mo Classical - Familial
+/+? 05_08 c.1337-?_1869+?del del ex5-8 r.1337_1869del; r.1337_1946del - - - ATP7A_00219 Poulsen 2002b r.1337_1869del (frame shift); r.1337_1946del (frame shift) PCR DNA, RNA Menkes disease Denmark:Glostrup - 1 - - - - Classical - Single case
+/+? 05_07 c.1337-?_1869+?dup - wild-type; r.1337_1869dup - - - ATP7A_00321 Mogensen 2011 r.1337_1869dup (frame shift); r.= (wild-type) MLPA, SEQ DNA, RNA Menkes disease Denmark:Glostrup - 1 - - - - Classical - -
+/+? 05_12 c.1337-?_2626+?del - r.1337-_2626del - - - ATP7A_00221 Tümer 1994a, 7807930:Tümer 1994b, Tümer 2003 in-frame Southern, PCR, PCRm, RT-PCR, SEQ DNA/RNA Menkes disease Denmark:Glostrup - 1 - - - 2yr 2mo Classical - Familial
+/+? 05_18 c.1337-?_3658+?del - - - - - ATP7A_00222 Tümer 2003 in-frame Southern, PCR, PCRm DNA Menkes disease Denmark:Glostrup - 1 - - - 12yr; 2mo Classical - Single case
+/+? 05_23 c.1337-?_5729+?del - - - - - ATP7A_00223 Tümer 2003 - Southern, PCR, PCRm DNA Menkes disease Denmark:Glostrup - 1 - - - - Classical - Single case
-/-? 5 c.1387C>T 1535C>T (L464L) - p.(Leu463Leu) - - ATP7A_00284 Ogawa 2000, Gu 2001, Hahn 2001, Watanabe 2005 - - - - Denmark:Glostrup - 1 - - - - - - -
+/+? 5 c.1460C>A 1605C>A (S487X) - p.(Ser487*) - - ATP7A_00061 Gu 2001 - SEQ DNA Menkes disease Denmark:Glostrup - 1 - - - - Classical - -
+/+? 5 c.(1475T>C) 1570T>C (I483T) - p.(Ile492Thr) - - ATP7A_00299 J:153280 (The Jackson Laboratory) Mouse model - - mottled 3 Bruce Beutler (Brown) Denmark:Glostrup - 1 - - - Viable brown coat color with normal pigmentation of the skin and eyes - Chemically induced
+/+? 5 c.(1519G>T) 1485G>T (Glu496Ter) - p.(Glu507*) - - ATP7A_00298 J:138687 (The Jackson Laboratory) Mouse model - - mottled 2 Bruce Beutler (Tigrou) Denmark:Glostrup - 1 - - - Prenatal lethality; males that survive to birth die within 20 days surviving males lack pigment except of the extremities - Chemically induced
-/-? 05i c.1544-272CA(19_24) (CA)B in intron 5 - p.= - - ATP7A_00283 Beggy 1995 6 observed (CA) alleles. n= 19, 20, 21, 22, 23, 24 - - - Denmark:Glostrup - 1 - - - - - - -
+/+? 6 c.1544-?_1707+?del - - - - - ATP7A_00224 Tümer 2003, Moller 2012 frame shift Southern, PCR, PCRm DNA Menkes disease Denmark:Glostrup - 1 - - - 1yr 6mo Classical - Familial
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The allelic variants listed here are a collection of those we have found in literature and which were submitted directly to the database. When you notice that we have missed allelic variants or when you detect mistakes, please let us know.



Legend: [ ATP7A 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. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. DNA published: What the variant was reported as. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. ATP7A DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Variant remarks: Variant remarks Technique: Technique used to detect the variation. Template: Variant detected in DNA, RNA and/or Protein. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the patient, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported Gender: Patient gender Ethnic origin: Ethnic origin of patient Geographic origin: Geographic origin of patient Phenotype/Dod or survival: Date of death or survival Phenotype/Severity: Phenotype/Severity Treatment: Treatment Occurrence: Occurrence