LOVD-CHM

LOVD - Variant listings for CHM

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+/? 5' Gene flanking 00 c.-98C>A -68C>A r.(?) p.(?) Hemizygous The variant was shown to abrogate gene expression in a promoter assay. Radziwon et al., 2017 - - CHM_00279 ChrX:g.85302634G>T C127-5116 Choroideremia (CHM) Radziwon et al., 2017 DNA SEQ - 1 Male -
+/+ 5' Gene flanking 00 c.-98C>T -68C>T r.(?) p.(?) Hemizygous The variant was shown to abrogate gene expression in a promoter assay. Radziwon et al., 2017 - - CHM_00280 ChrX:g.85302634G>A GC406 Choroideremia (CHM) Radziwon et al., 2017 DNA SEQ - 1 Male -
+/+ Exon 01 c.-30-1978_49+9142del 1-2010_49+9140del r.(?) p.(?) Hemizygous - van den Hurk et al., 2003 RFC1-1 - CHM_00112 ChrX:g.85293346_85304543del NL010360001 Choroideremia (CHM) van den Hurk et al., 2003 DNA SEQ - 1 Male -
+/+ Exon 01 c.-30-?_49+?del 1-?_79+?del r.(?) p.(?) Heterozygous - Yau et al., 2007 RFC1-1 - CHM_00095 ChrX:g.85302488-?_85302565+?del CA010540001 Choroideremia (CHM) Yau et al., 2007 DNA SEQ Carrier 1 Female -
+/+ Exon 01 c.-30-?_49+?del 1-?_79+?del r.(?) p.(?) Hemizygous REP-1 not detected. Mc Taggart et al., 2002 RFC1-1 - CHM_00095 ChrX:g.85302488-?_85302565+?del CA010550001 Choroideremia (CHM) Mc Taggart et al., 2002 DNA SEQ - 1 Male -
+/+ Exon 01 c.-30-?_49+?del 1-?_79+?del r.(?) p.(?) Hemizygous REP-1 not detected. Mc Taggart et al., 2002 RFC1-1 - CHM_00095 ChrX:g.85302488-?_85302565+?del CA010560001 Choroideremia (CHM) Mc Taggart et al., 2002 DNA SEQ - 1 Male -
+/+ Exon 01 c.-30-?_49+?del 1-?_79+?del r.(?) p.(?) Hemizygous - van den Hurk et al., 1997 RFC1-1 - CHM_00095 ChrX:g.85302488-?_85302565+?del NL010370001 Choroideremia (CHM) van den Hurk et al., 1997 DNA SEQ - 1 Male -
+/+ Exon 01 c.-30-?_49+?del 1-?_79+?del r.(?) p.(?) Hemizygous - van den Hurk et al., 1997 RFC1-1 - CHM_00095 ChrX:g.85302488-?_85302565+?del NL010380001 Choroideremia (CHM) van den Hurk et al., 1997 DNA SEQ - 1 Male -
?/? Exon 01 c.-30-?_49+?del 1-?_79+?del r.(?) p.(?) Heterozygous - Aleman TS et al., 2017 RFC1-1 - CHM_00095 ChrX:g.85302488-?_85302565+?del 13004 Choroideremia (CHM) Aleman TS et al., 2017 DNA SEQ - 1 Male -
+/+ Exon 01-02 c.-30-?_116+?del 1-?_146+?del r.? p.? Hemizygous - van den Hurk et al., 1997 RFC1-2 - CHM_00096 ChrX:g.85282495-?_85302565+?del NL010390001 Choroideremia (CHM) van den Hurk et al., 1997 DNA SEQ - 1 Male -
+/+ Exon 01-12 c.-30-?_116+?dup;c.1167-?_1510+?dup c.1-?_146+?dup;c.1197-?_1540+?dup r.(?) p.(?) Hemizygous Noncontiguous duplication of exons 1-2 and 9-12 Edwards TL et al., 2017 - - CHM_00350 ChrX:g.85282495-?_85302566+?dup;85149193-?_85166343+?dup 9 Choroideremia (CHM) Edwards TL et al., 2017 DNA SEQ - 1 - -
+/+ Exon 01-08 c.-30-?_1166+?del 1-?_1196+?del r.? p.? Hemizygous DXS110-DXS540 del van Bokhoven et al., 1994 RFC1-8 - CHM_00097 ChrX:g.85211158-?_85302565+?del NL010400001 Choroideremia (CHM) van Bokhoven et al., 1994 DNA SEQ - 1 Male Sweden
+/+ Exon 01-08 c.-30-?_1166+?del 1-?_1196+?del r.? p.? Hemizygous DXS110-DXS540 del van Bokhoven et al., 1994 RFC1-8 - CHM_00097 ChrX:g.85211158-?_85302565+?del NL010410001 Choroideremia (CHM) van Bokhoven et al., 1994 DNA SEQ - 1 Male Germany
+/+ Exon 01-11 c.-30-?_1413+?del 1-?_1443+?del r.(?) p.(?) Hemizygous - Ramsden SC et al., 2013 - - CHM_00286 ChrX:g.85155651-?_85302565+?del 01 Choroideremia (CHM) Ramsden SC et al., 2013 DNA SEQ - 1 Male UK
+/+ Exon 01-12 c.-30-?_1510+?del 1-?_1630+?del r.? p.? Hemizygous - Dimopoulos IS et al., 2016 RFC01-12 - CHM_00245 ChrX:g.85211158-?_85236813+?del C310GP Choroideremia (CHM) Canada:Edmonton DNA PCR No amplification of missing exons 1 Male -
+/+ Exon 01-13 c.-30-?_1609+?del 1-?_1639+?del r.? p.? Hemizygous - Fujiki et al., 1999 RFC1-13 - CHM_00098 ChrX:g.85133970-?_85302565+?del JP010210001 Choroideremia (CHM) Fujiki et al., 1999 DNA SEQ - 1 Male Japan
+/+ Exon 01-15 c.-30-?_*3450+?del 1-?_5442+?del r.0 p.0 Hemizygous Total deletion of the gene. Mc Taggart et al., 2002 RFC1-15 - CHM_00099 ChrX:g.85116185-?_85302565+?del CA010570001 Choroideremia (CHM) Mc Taggart et al., 2002 DNA SEQ - 1 Male -
+/+ Exon 01-15 c.-30-?_*3450+?del 1-?_5442+?del r.0 p.0 Hemizygous Total deletion of the gene. Mc Taggart et al., 2002 RFC1-15 - CHM_00099 ChrX:g.85116185-?_85302565+?del CA010580001 Choroideremia (CHM) Mc Taggart et al., 2002 DNA SEQ - 1 Male -
+/+ Exon 01-15 c.-30-?_*3450+?del 1-?_5442+?del r.0 p.0 Hemizygous Total deletion of the gene. Ponjavic et al., 1995 RFC1-15 - CHM_00099 ChrX:g.85116185-?_85302565+?del SE010010001 Choroideremia (CHM) Ponjavic et al., 1995 DNA SEQ - 1 Male Sweden
+/+ Exon 01-15 c.-30-?_*3450+?del 1-?_5442+?del r.0 p.0 Hemizygous Total deletion of the gene. Deletion extending from DXS110 to DXS121. van Bokhoven et al., 1994 RFC1-15 - CHM_00099 ChrX:g.85116185-?_85302565+?del NL010420001 Choroideremia (CHM) van Bokhoven et al., 1994 DNA SEQ - 1 Male Finland
+/+ Exon 01-15 c.-30-?_*3450+?del 1-?_5442+?del r.0 p.0 Hemizygous Total deletion of the gene. Deletion extending from DXS110 to DXS233. van Bokhoven et al., 1994 RFC1-15 - CHM_00099 ChrX:g.85116185-?_85302565+?del NL010420001 Choroideremia (CHM) van Bokhoven et al., 1994 DNA SEQ - 1 Male -
+/+ Exon 01-15 c.-30-?_*3450+?del 1-?_5442+?del r.0 p.0 Hemizygous Total deletion of the gene. van Bokhoven et al., 1994 RFC1-15 - CHM_00099 ChrX:g.85116185-?_85302565+?del NL010430001 Choroideremia (CHM) van Bokhoven et al., 1994 DNA SEQ - 1 Male -
+/+ Exon 01-15 c.-30-?_*3450+?del 1-?_5442+?del r.0 p.0 Hemizygous Total deletion of the gene. DXS110-pJ7.6A del. Cremers et al., 1990 RFC1-15 - CHM_00099 ChrX:g.85116185-?_85302565+?del NL010440001 Choroideremia (CHM) Cremers et al., 1990 DNA SEQ - 1 Male Germany
+/+ Exon 01-15 c.-30-?_*3450+?del 1-?_5442+?del r.0 p.0 Hemizygous Total deletion of the gene. DXS1002-pJ7.6A del. Schwartz et al., 1993 RFC1-15 - CHM_00099 ChrX:g.85116185-?_85302565+?del NL010450001 Choroideremia (CHM) Schwartz et al., 1993 DNA SEQ - 1 Male Denmark
+/+ Exon 01-15 c.-30-?_*3450+?del 1-?_5442+?del r.0 p.0 Hemizygous Total deletion of the gene. Ex1-DXS165 del. Cremers et al., 1990 RFC1-15 - CHM_00099 ChrX:g.85116185-?_85302565+?del NL010460001 Choroideremia (CHM) Cremers et al., 1990 DNA SEQ - 1 Male Germany
+/+ Exon 01-15 c.-30-?_*3450+?del 1-?_5442+?del r.0 p.0 Hemizygous Total deletion of the gene. DXS110-pJ15 del. van Bokhoven et al., 1994 RFC1-15 - CHM_00099 ChrX:g.85116185-?_85302565+?del NL010470001 Choroideremia (CHM) van Bokhoven et al., 1994 DNA SEQ - 1 Male Sweden
+/+ Exon 01-15 c.-30-?_*3450+?del 1-?_5442+?del r.0 p.0 Hemizygous Total deletion of the gene. Garcia-Hoyos et al., 2008 RFC1-15 - CHM_00099 ChrX:g.85116185-?_85302565+?del SP010080001 Choroideremia (CHM) Garcia-Hoyos et al., 2008 DNA SEQ - 1 Male Spain
+/+ Exon 01-15 c.-30-?_*3450+?del 1-?_5442+?del r.0 p.0 Hemizygous Total deletion of the gene. Poloschek et al., 2008 RFC1-15 - CHM_00099 ChrX:g.85116185-?_85302565+?del DE020010001 Choroideremia (CHM) Poloschek et al., 2008 DNA SEQ Syndromic choroideremia: associated with Martin-Probst deafness mental retardation syndrome. 1 Male -
+/+ Exon 01-15 c.-30-?_*3450+?del 1-?_5442+?del r.0 p.0 Hemizygous Total deletion of the gene. Poloschek et al., 2008 RFC1-15 - CHM_00099 ChrX:g.85116185-?_85302565+?del DE020020001 Choroideremia (CHM) Poloschek et al., 2008 DNA SEQ Syndromic choroideremia: associated with Martin-Probst deafness mental retardation syndrome. 1 Male -
+/+ Exon 01-15 c.-30-?_*3450+?del 1-?_5442+?del r.0 p.0 Hemizygous Total deletion of the gene. DXS95-DXS72 del. Markus Preising, Pooled Sample Homoallelity Testing (PSHT): Ein neues Verfahren zur Genlokalisation bei autosomal rezessiven und X-gekoppelten ErkrankungenrnThesis, Westf. Wilhelms-Universität, Münster, Schüling Verlag und Universitäts Dissertationen, WWU Münster, 1999 ISBN: 3-930962-89-6 Preising RFC1-15 - CHM_00099 ChrX:g.85116185-?_85302565+?del DE010020001 Choroideremia (CHM) Preising DNA SEQ Markus Preising, Pooled Sample Homoallelity Testing (PSHT): Ein neues Verfahren zur Genlokalisation bei autosomal rezessiven und X-gekoppelten ErkrankungenrnThesis, Westf. Wilhelms-Universität, Münster, Schüling Verlag und Universitäts Dissertationen, WWU Münster, 1999 ISBN: 3-930962-89-6 1 Male -
+/+ Exon 01-15 c.-30-?_*3450+?del 1-?_5442+?del r.0 p.0 Hemizygous Total deletion of the gene. Preising RFC1-15 - CHM_00099 ChrX:g.85116185-?_85302565+?del DE010030001 Choroideremia (CHM) Preising DNA SEQ Markus Preising, Pooled Sample Homoallelity Testing (PSHT): Ein neues Verfahren zur Genlokalisation bei autosomal rezessiven und X-gekoppelten ErkrankungenrnThesis, Westf. Wilhelms-Universität, Münster, Schüling Verlag und Universitäts Dissertationen, WWU Münster, 1999 ISBN: 3-930962-89-6 1 Male -
+/+ Exon 01-15 c.-30-?_*3450+?del 1-?_5442+?del r.0 p.0 Hemizygous Total deletion of the gene. Strunnikova et al., 2009 RFC1-15 - CHM_00099 ChrX:g.85116185-?_85302565+?del US0400200011 Choroideremia (CHM) Strunnikova et al., 2009 DNA, RNA, Protein SEQ Proband 1 Male -
+/+ Exon 01-15 c.-30-?_*3450+?del 1-?_5442+?del r.0 p.0 Hemizygous Total deletion of the gene. Esposito et al., 2011 RFC1-15 - CHM_00099 ChrX:g.85116185-?_85302565+?del I-CHM17 Choroideremia (CHM) Esposito et al., 2011 DNA, RNA, Protein PCR, PTT, RT-PCR, SEQ - 1 Male Italy
+/+ Exon 01-15 c.-30-?_*3450+?del 1-?_5442+?del r.0 p.0 Hemizygous Total deletion of the gene. Esposito et al., 2011 RFC1-15 - CHM_00099 ChrX:g.85116185-?_85302565+?del I-CHM18 Choroideremia (CHM) Esposito et al., 2011 DNA, RNA, Protein PCR, PTT, RT-PCR, SEQ - 1 Male Italy
+/+ Exon 01-15 c.-30-?_*3450+?del 1-?_5442+?del r.0 p.0 Hemizygous Total deletion of the gene. Khateb et al., 2016 RFC1-15 - CHM_00099 ChrX:g.85116185-?_85302565+?del IS01MOL010212 Choroideremia (CHM) Khateb et al., 2016 DNA SEQ, SEQ-NG-S Proband 1 - ISRAEL
+/+ Exon 01-15 c.-30-?_*3450+?del 1-?_5442+?del r.0 p.0 Hemizygous Total deletion of the gene. Aleman TS et al., 2017 RFC1-15 - CHM_00099 ChrX:g.85116185-?_85302565+?del 13015 Choroideremia (CHM) Aleman TS et al., 2017 DNA PCR - 1 - -
+/+ Exon 01 c.3G>A 33G>A r.(?) p.(?) Hemizygous Variant affecting initiation codon Strunnikova et al., 2009 - - CHM_00128 ChrX:g.85302534C>T US0400700011 Choroideremia (CHM) Strunnikova et al., 2009 DNA, RNA, Protein SEQ Proband 1 Male -
+/+ Exon 01 c.16_17dupCC 46_47dupCC r.16_17dup p.(Ser7Leufs*6) Hemizygous - Dysli C et al., 2016 - - CHM_00307 ChrX:g.85302520_85302521dupGG 1 Choroideremia (CHM) Dysli C et al., 2016 DNA SEQ - 1 - -
+/+ Exon 01 c.17delC 47delC r.(?) p.(Pro6Leufs*6) Hemizygous REP-1 not detected Mc Taggart et al., 2002 - - CHM_00005 ChrX:g.85302520delG CA010010001 Choroideremia (CHM) - DNA SEQ - 1 Male -
+/+ Exon 01 c.20C>A 50C>A r.20C>A p.(Ser7*) Hemizygous - Ramsden SC et al., 2013 - - CHM_00310 ChrX:g.85302517G>T 3 Choroideremia (CHM) Ramsden SC et al., 2013 DNA SEQ - 1 Male UK
+/+ Exon 01 c.25_28delTTTGinsAGTAATAGTAA 55_58delTTTGinsAGTAATAGTAA r.25_28delUUUGinsAGUAAUAGUAA p.Phe9Serfs*14 Hemizygous - Freund et al., 2016 - - CHM_00282 ChrX:g.85302509_85302512delinsTTACTATTACT 15 Choroideremia (CHM) - DNA SEQ - 1 Male -
+/+ Exon 01 c.25_28delTTTGinsAGTAATAGTAA 55_58delTTTGinsAGTAATAGTAA r.25_28delUUUGinsAGUAAUAGUAA p.Phe9Serfs*14 Hemizygous - Aleman TS et al., 2017 - - CHM_00282 ChrX:g.85302509_85302512delinsTTACTATTACT CHM04 Choroideremia (CHM) Aleman TS et al., 2017 DNA SEQ - 1 - -
+/+ Exon 01 c.37delG 67del r.37del p.(Val13*) Hemizygous - Freund et al., 2016 - - CHM_00351 ChrX:g.85302500delC 16 Choroideremia (CHM) Freund et al., 2016 DNA SEQ - 1 Male -
+/+ Exon 01 c.49G>T 79G>T r.(?) p.(?) Hemizygous Likely affects splicing Sanchez-Alcudia R et al., 2016 - - CHM_00390 ChrX:g.85302488C>A 175 Choroideremia (CHM) Sanchez-Alcudia R et al., 2016 DNA SEQ - 1 Male Belgium
+/+ Intron 01i c.49+1G>A 79+1G>A r.(?) p.(?) Hemizygous Aberrant splicing Mc Taggart et al., 2002 - - CHM_00006 ChrX:g.85302487C>T CA010020001 Choroideremia (CHM) Mc Taggart et al., 2002 DNA SEQ - 1 Male -
+/+ Intron 01i c.49+2dupT 79+2dupT r.(?) p.(?) Hemizygous - Ramsden SC et al., 2013 - - CHM_00311 ChrX:g.85302486dupA 4 Choroideremia (CHM) Ramsden SC et al., 2013 DNA SEQ - 1 Male UK
+/+ Intron 01i c.49+3A>G 79+3A>G r.(?) p.(?) Hemizygous - Freund et al., 2016 - - CHM_00352 ChrX:g.85302485T>C 18 Choroideremia (CHM) Freund et al., 2016 DNA SEQ - 1 Male -
+/+ Intron 01i c.49+3del 79+3del r.(?) p.(?) Hemizygous - Edwards TL et al., 2015 - - CHM_00406 ChrX:g.85302485del 6 Choroideremia (CHM) Edwards TL et al., 2015 DNA SEQ - 1 Male -
+/+ Intron 01i c.49+3_49+10delinsGCTT 79+3_79+10delinsGCTT r.(?) p.(?) Hemizygous - Ramsden SC et al., 2013 - - CHM_00312 ChrX:g.85302478_85302485delinsAAGC 5 Choroideremia (CHM) Ramsden SC et al., 2013 DNA SEQ - 1 Male UK
+/+ Intron 01i c.49+5G>T 79+5G>T r.(?) p.(?) Hemizygous Aberrant splicing van den Hurk et al., 2003 - - CHM_00007 ChrX:g.85302483C>A NL010010001 Choroideremia (CHM) van den Hurk et al., 2003 DNA SEQ - 1 Male -
+/+ Intron 01i c.49+5G>T 79+5G>T r.(?) p.(?) Hemizygous Aberrant splicing Aleman TS et al., 2017 - - CHM_00007 ChrX:g.85302483C>A 13118 Choroideremia (CHM) Aleman TS et al., 2017 DNA SEQ - 1 - -
+/+ Intron 01i c.50-1G>C 80-1G>C r.(?) p.(?) Hemizygous Aberrant splicing Fujiki et al., 1999 - - CHM_00008 ChrX:g.85282562C>G JP010010001 Choroideremia (CHM) Fujiki et al., 1999 DNA SEQ - 1 Male Japan
+/+ Intron 01i c.50-1G>C 80-1G>C r.(?) p.(?) Hemizygous Aberrant splicing Fujiki et al., 1999 - - CHM_00008 ChrX:g.85282562C>G JP010020001 Choroideremia (CHM) Fujiki et al., 1999 DNA SEQ - 1 Male Japan
+/+ Exon 02 c.50-?_116+?del 80-?_146+?del r.(?) p.(?) Hemizygous - Sanchez-Alcudia R et al., 2016 - - CHM_00391 ChrX:g.85282495-?_85282561+?del 149 Choroideremia (CHM) Sanchez-Alcudia R et al., 2016 DNA aCGH - 1 Male Spain
+/+ Exon 02-03 c.50-?_189+?del 80-?_219+?del r.50_189del p.(Gly17Aspfs*10) Hemizygous REP1 mRNA lacks exons 2 and 3. Esposito et al., 2011 RFC2-3 - CHM_00115 ChrX:g.85236741-?_85282561+?del I-CHM02 Choroideremia (CHM) Esposito et al., 2011, Italy:Napoli DNA, RNA, Protein PTT, RT-PCR, SEQ - 1 Male Italy
+/+ Exon 02-04 c.50-?_314+?del 80-?_334+?del r.? p.? Hemizygous - Freund et al., 2016 RFC2-4 - CHM_00267 ChrX:g.85233771-?_85282561+?del C219AG Choroideremia (CHM) - DNA PCR - 1 Male -
+/+ Exon 02-04 c.50-?_314+?del 80-?_334+?del r.? p.? Hemizygous - Aleman TS et al., 2017 RFC2-4 - CHM_00267 ChrX:g.85233771-?_85282561+?del 13040 Choroideremia (CHM) Aleman TS et al., 2017 DNA SEQ - 1 - -
+/+ Exon 02 c.82delT 112del r82del p.(Ser28Glnfs*32) Hemizygous - Cideciyan AV et al., 2015 - - CHM_00394 ChrX:g.85282529delA P26 Choroideremia (CHM) Cideciyan AV et al., 2015 DNA SEQ - 1 - -
+?/+? Exon 02 c.104T>C 134T>C r.104U>C p.(Leu35Pro) Hemizygous - Ramsden SC et al., 2013 - - CHM_00313 ChrX:g.85282507A>G 6 Choroideremia (CHM) Ramsden SC et al., 2013 DNA SEQ - 1 Male UK
+?/+? Exon 02 c.104T>C 134T>C r.104U>C p.(Leu35Pro) Hemizygous - Simunovic MP et al., 2017 - - CHM_00313 ChrX:g.85282507A>G CHM10 Choroideremia (CHM) Simunovic MP et al., 2017 DNA SEQ - 1 - -
+/+ Exon 02 c.116C>A 146C>A r.116C>A p.(Ser39*) Hemizygous - Sanchez-Alcudia R et al., 2016 - - CHM_00387 ChrX:g.85282495G>T 164 Choroideremia (CHM) Sanchez-Alcudia R et al., 2016 DNA SEQ - 1 Male Spain
+/+ Intron 02i c.116+1G>A 146+1G>A r.(?) p.(?) Hemizygous - Fujiki et al., 1999 - - CHM_00009 ChrX:g.85282494C>T JP010030001 Choroideremia (CHM) Fujiki et al., 1999 DNA SEQ - 1 Male Japan
+/+ Intron 02i c.116+1G>A 146+1G>A r.(?) p.(?) Hemizygous - Mc Taggart et al., 2002 - - CHM_00009 ChrX:g.85282494C>T CA010030001 Choroideremia (CHM) Mc Taggart et al., 2002 DNA SEQ - 1 Male -
+/+ Intron 02i c.116+1G>A 146+1G>A r.(?) p.(?) Hemizygous - van den Hurk et al., 2003 - - CHM_00009 ChrX:g.85282494C>T NL010020001 Choroideremia (CHM) van den Hurk et al., 2003 DNA SEQ - 1 Male -
+/+ Intron 02i c.116+1G>A 146+1G>A r.(?) p.(?) Hemizygous - Aleman TS et al., 2017 - - CHM_00009 ChrX:g.85282494C>T 13181 Choroideremia (CHM) Aleman TS et al., 2017 DNA SEQ - 1 - -
+/+ Intron 02i c.116+1G>C 146+1G>C r.(?) p.(?) Hemizygous - Freund et al., 2016 - - CHM_00353 ChrX:g.85282494C>G 23 Choroideremia (CHM) Freund et al., 2016 DNA SEQ - 1 Male -
+/+ Intron 02i c.116+1G>T 146+1G>T r.50_116del p.(Gly17Glufs*21) Hemizygous Aberrant splicing that causes exon 2 skipping at mRNA level Esposito et al., 2011 RFC2-2 - CHM_00114 ChrX:g.85282494C>A I-CHM01 Choroideremia (CHM) Esposito et al., 2011, Italy:Napoli DNA, RNA, Protein PTT, RT-PCR, SEQ - 1 Male Italy
+/+ Exon 03-04 c.117-?_314+?del 147-?_344+?del r.? p.? Hemizygous - Garcia-Hoyos et al., 2008 RFC3-4 - CHM_00100 ChrX:g.85233771-?_85236813+?del SP010090001 Choroideremia (CHM) Garcia-Hoyos et al., 2008 DNA SEQ - 1 Male Spain
+/+ Exon 03-12 c.117-?_314+?del;c.703-?_1510+?del 147-?_344+?del;733-?_1541+?del r.? p.? Hemizygous Non contiguous deletion of exons 3-4 and 6-12 - RFC3-4 - CHM_00264 ChrX:g.85233771-?_85236813+?del;g.85212860-?_85149193+?del C209OH Choroideremia (CHM) Canada:Edmonton DNA PCR - 1 Male -
+/+ Exon 03-07 c.117-?_940+?del 147-?_970+?del r.? p.? Hemizygous - Dimopoulos IS et al., 2016 RFC3-7 - CHM_00272 ChrX:g.85211354-?_85236783+?del C308JO Choroideremia (CHM) Canada:Edmonton DNA PCR - 1 Male -
+/+ Exon 03-08 c.117-?_1166+?del 147-?_1196+?del r.? p.? Hemizygous - Mc Taggart et al., 2002 RFC3-8 - CHM_00101 ChrX:g.85211158-?_85236813+?del CA010590001 Choroideremia (CHM) Mc Taggart et al., 2002 DNA SEQ - 1 Male -
+/+ Exon 03-08 c.117-?_1166+?del 147-?_1196+?del r.? p.? Hemizygous - Cremers et al., 1990 RFC3-8 - CHM_00111 ChrX:g.85211158-?_85236813+?del NL010480001 Choroideremia (CHM) Cremers et al., 1990 DNA SEQ - 1 Male Finland
+/+ Exon 03-08 c.117-?_1166+?del 147-?_1196+?del r.? p.? Hemizygous - Aleman TS et al., 2017 RFC3-8 - CHM_00101 ChrX:g.85211158-?_85236813+?del 13031 Choroideremia (CHM) Aleman TS et al., 2017 DNA PCR - 1 - -
+/+ Exon 03-08 c.117-?_1166+?del 147-?_1196+?del r.? p.? Hemizygous - Aleman TS et al., 2017 RFC3-8 - CHM_00101 ChrX:g.85211158-?_85236813+?del 13197 Choroideremia (CHM) Aleman TS et al., 2017 DNA PCR - 1 - -
+/+ Exon 03-09 c.117-?_1244+?del 147-?_1274+?del r.? p.? Hemizygous - Jacobson et al., 2006 RFC3-9 - CHM_00102 ChrX:g.85166266-?_85236813+?del US020020001 Choroideremia (CHM) Jacobson et al., 2006 DNA SEQ - 1 Male -
+?/? Exon 03-08 c.117-?_1244+?dup 147-?_1274+?dup r.? p.? Hemizygous - Chi et al., 2012 RFC03-08 - CHM_00134 ChrX:g.85166266-?_85236813+?dup CA020010001 Choroideremia (CHM) Chi et al., 2012, Finland:Helsinki DNA SEQ - 1 Male Canada
+/+ Exon 03-12 c.117-?_1510+?del 147-?_1540+?del r.? p.? Hemizygous - Mc Taggart et al., 2002 RFC3-12 - CHM_00103 ChrX:g.85149193-?_85236813+?del CA010640001 Choroideremia (CHM) Mc Taggart et al., 2002 DNA SEQ - 1 Male -
+/+ Exon 03-15 c.117-?_*3450+?del 147-?_5442+?del r.? p.? Hemizygous - van Bokhoven et al., 1994 RFC3-15 - CHM_00104 ChrX:g.85116185-?_85236813+?del NL010500001 Choroideremia (CHM) van Bokhoven et al., 1994 DNA SEQ - 1 Male -
+/+ Exon 03 c.124_133dup 154_163dup r.124_133dup p.(Gly45Valfs*10) Hemizygous - Seitz et al., 2015 - - CHM_00395 ChrX:g.85236797_85236806dup 3 Choroideremia (CHM) Seitz et al., 2015 DNA SEQ - 1 Male Germany
+/+ Exon 03 c.126C>G 156C>G r.126C>G p.(Tyr42*) Hemizygous - Ramsden SC et al., 2013 - - CHM_00314 ChrX:g.85236804G>C 7 Choroideremia (CHM) Ramsden SC et al., 2013 DNA SEQ - 1 Male UK
+/+ Exon 03 c.130G>T 160G>T r.(?) p.(Gly44*) Hemizygous REP-1 not detected Mc Taggart et al., 2002 - - CHM_00010 ChrX:g.85236800C>A CA010040001 Choroideremia (CHM) Mc Taggart et al., 2002 DNA SEQ - 1 Male -
+/+ Exon 03 c.140G>A 170G>A r.(?) p.(Trp47*) Hemizygous - Fujiki et al., 1999 - - CHM_00011 ChrX:g.85236790C>T JP010040001 ? Fujiki et al., 1999 DNA SEQ Carrier, mother of patient 1 Female Japan
+/+ Exon 03 c.141G>A 171G>A r.141G>A p.(Trp47*) Hemizygous - Sanchez-Alcudia R et al., 2016 - - CHM_00388 ChrX:g.85236789C>T 165 Choroideremia (CHM) Sanchez-Alcudia R et al., 2016 DNA SEQ - 1 Male Spain
+/+ Exon 03 c.167dupT 197dup r.167dup p.(Leu56Phefs*12) Hemizygous - Freund et al., 2016 - - CHM_00354 ChrX:g.85236763dupA 28 Choroideremia (CHM) Freund et al., 2016 DNA SEQ - 1 Male -
+/+ Exon 03 c.173G>A 203G>A r.173G>A p.(Trp58*) Hemizygous - Ramsden SC et al., 2013 - - CHM_00315 ChrX:g.85236757C>T 8 Choroideremia (CHM) Ramsden SC et al., 2013 DNA SEQ - 1 Male UK
+/+ Exon 03 c.179delA 209del r.179del p.(Lys60Argfs*10) Hemizygous - Freund et al., 2016 - - CHM_00344 ChrX:g.85236751delT CHM1 Choroideremia (CHM) Simunovic MP et al., 2016 DNA SEQ - 1 - -
+/+ Exon 03 c.184_189+3delTACCAGGTA 214_219+3delTACCAGGTA r.(?) p.(?) Hemizygous - Bae K et. al., 2017 - - CHM_00411 ChrX:g.85236738_85236746delTACCTGGTA A Choroideremia (CHM) Bae K et. al., 2017 DNA SEQ - 1 Male Korea
+/+ Intron 03i c.189+1 G>T 219+1G>T - - Hemizygous - Aleman TS et al., 2017 - - CHM_00285 ChrX:g.85236740C>A 13017 Choroideremia (CHM) Aleman TS et al., 2017 DNA SEQ - 1 - -
+/+ Intron 03i c.189+1G>A 219+1G>A r.117_189del p.(?) Hemizygous Mutation mRNA level : Skipping exon 3 van den Hurk et al., 2003 RFC3-3 - CHM_00012 ChrX:g.85236740C>T NL010030001 Choroideremia (CHM) van den Hurk et al., 2003 DNA SEQ - 1 Male -
+/+ Intron 03i c.189+1G>A 219+1G>A r.117_189del p.(?) Hemizygous Mutation mRNA level : Skipping exon 3 Garcia-Hoyos et al., 2008 RFC3-3 - CHM_00012 ChrX:g.85236740C>T SP010010001 Choroideremia (CHM) Garcia-Hoyos et al., 2008 DNA SEQ - 1 Male Spain
+/+ Intron 03i c.189+1G>C 219+1G>C r.(?) p.(?) Hemizygous - Ramsden SC et al., 2013 - - CHM_00316 ChrX:g.85236740C>G 9 Choroideremia (CHM) Ramsden SC et al., 2013 DNA SEQ - 1 Male UK
?/? Intron 03i c.190-14T>G 220-14T>G r.(?) p.(?) Hemizygous The pathogenicity of this mutation is uncertain as RT-PCR did not give abnormal mRNA. van Bokhoven et al., 1994 - - CHM_00013 ChrX:g.85233909A>C DN010010001 ? van Bokhoven et al., 1994 DNA SEQ - 1 ? Denmark
+/+ Intron 03i c.190-2A>G 220-2A>G r.190_197del p.(?) Hemizygous Activation of a cryptic splice acceptor site within exon 4 causes the deletion of the first eight nucleotides of exon 4 van den Hurk et al., 2003 - - CHM_00014 ChrX:g.85233897T>C NL010040001 Choroideremia (CHM) van den Hurk et al., 2003 DNA SEQ - 1 Male -
+/+ Exon 04-15 c.190-?_*3450+?del 220-?_5442+?del r.? p.? Hemizygous DXS540-DXS72 del. Markus Preising, Pooled Sample Homoallelity Testing (PSHT):rnEin neues Verfahren zur Genlokalisation bei autosomal rezessiven und X-gekoppelten ErkrankungenrnThesis, Westf. Wilhelms-Universität, Münster, Schüling Verlag und Universitäts Dissertationen, WWU Münster, 1999 ISBN: 3-930962-89-6 Preising RFC4-15 - CHM_00113 ChrX:g.85116185-?_85233895+?del DE010040001 Choroideremia (CHM) Preising DNA SEQ Markus Preising, Pooled Sample Homoallelity Testing (PSHT): Ein neues Verfahren zur Genlokalisation bei autosomal rezessiven und X-gekoppelten ErkrankungenrnThesis, Westf. Wilhelms-Universität, Münster, Schüling Verlag und Universitäts Dissertationen, WWU Münster, 1999 ISBN: 3-930962-89-6 1 Male -
+/+ Exon 04 c.194del 224del r.194del p.(Asn65Thrfs*5) Hemizygous - - - - CHM_00269 ChrX:g.85233891del C230-3485 Choroideremia (CHM) Canada:Edmonton DNA SEQ - 1 - -
+/+ Exon 04 c.224G>A 254G>A r.224G>A p.(Trp75*) Hemizygous - - - - CHM_00249 ChrX:g.85233831C>T C277 Choroideremia (CHM) Canada:Edmonton DNA MLPA - 1 Male -
+/+ Exon 04 c.225G>A 255G>A r.225G>A p.(Trp75*) Hemizygous - Freund et al., 2016 - - CHM_00355 ChrX:g.85233860C>T 30 Choroideremia (CHM) Freund et al., 2016 DNA SEQ - 1 Male -
+/+ Exon 04 c.226C>T 256C>T r.(?) p.(Gln76*) Hemizygous - Villaverde et al., 2007 - - CHM_00015 ChrX:g.85233859G>A SP010020001 Choroideremia (CHM) Villaverde et al., 2007 DNA SEQ - 1 Male -
+/+ Exon 04 c.227_232delinsTGTCATTTCA 257_262delinsTGTCATTTCA r.227_232delinsUGUCAUUUCA p.(Gln76Leufs*7) Hemizygous - Cai XB et al., 2016 - - CHM_00341 ChrX:g.85233853_85233858delinsTGAAATGACA F1:IV:2 Choroideremia (CHM) Cai XB et al., 2016 DNA SEQ-NG-S - 1 Male China
+/+ Exon 04 c.232C>T 262C>T r.232C>U p.(Gln78*) Hemizygous - Freund et al., 2016 - - CHM_00251 ChrX:g.85233853G>A C16JR Choroideremia (CHM) Canada:Edmonton DNA SEQ - 1 Male -
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Legend: [ CHM 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. Location: Variant location at DNA level. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. DNA old nomenclature: DNA old nomenclature for CHM. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Inheritance: Type of inheritance (e.g. heterozygous) Variant remarks: Integrates Classification: Neutral - UV1 (certainly neutral) - UV2 (likely neutral) - UV3 (likely pahtogenic) - UV4 (certainly pathogenic) - Pathogenic. Except for CHM where annotations concerning the effect of the variant are mentioned instead.

Reference: Reference describing the variation dbSNP/RFC: Accession number (rs) in dbSNP or link to reading frame checker Missense: Create a link for USMA and/or MSV3d CHM DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Genomic DNA change: Genomic DNA change following hg19 Patient ID: Internal reference to the patient. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Remarks: remarks on patient. # Reported: Number of times this case has been reported Gender: Patient gender Geographic origin: Geographic origin of patient