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
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
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
Exon 01 c.-30-?_49+?del
  (Reported 6 times)
1-?_79+?del r.(?) p.(?) Heterozygous - Yau et al., 2007 RFC1-1 - CHM_00095 ChrX:g.85302488-?_85302565+?del
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
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
Exon 01-08 c.-30-?_1166+?del
  (Reported 2 times)
1-?_1196+?del r.? p.? Hemizygous DXS110-DXS540 del van Bokhoven et al., 1994 RFC1-8 - CHM_00097 ChrX:g.85211158-?_85302565+?del
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
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
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
Exon 01-15 c.-30-?_*3450+?del
  (Reported 20 times)
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
Exon 01 c.3G>A 33G>A r.(?) p.(?) Hemizygous Variant affecting initiation codon Strunnikova et al., 2009 - - CHM_00128 ChrX:g.85302534C>T
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
Exon 01 c.17delC 47delC r.(?) p.(Pro6Leufs*6) Hemizygous REP-1 not detected Mc Taggart et al., 2002 - - CHM_00005 ChrX:g.85302520delG
Exon 01 c.20C>A 50C>A r.20C>A p.(Ser7*) Hemizygous - Ramsden SC et al., 2013 - - CHM_00310 ChrX:g.85302517G>T
Exon 01 c.25_28delTTTGinsAGTAATAGTAA
  (Reported 2 times)
55_58delTTTGinsAGTAATAGTAA r.25_28delUUUGinsAGUAAUAGUAA p.Phe9Serfs*14 Hemizygous - Freund et al., 2016 - - CHM_00282 ChrX:g.85302509_85302512delinsTTACTATTACT
Exon 01 c.37delG 67del r.37del p.(Val13*) Hemizygous - Freund et al., 2016 - - CHM_00351 ChrX:g.85302500delC
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
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
Intron 01i c.49+2dupT 79+2dupT r.(?) p.(?) Hemizygous - Ramsden SC et al., 2013 - - CHM_00311 ChrX:g.85302486dupA
Intron 01i c.49+3A>G 79+3A>G r.(?) p.(?) Hemizygous - Freund et al., 2016 - - CHM_00352 ChrX:g.85302485T>C
Intron 01i c.49+3del 79+3del r.(?) p.(?) Hemizygous - Edwards TL et al., 2015 - - CHM_00406 ChrX:g.85302485del
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
Intron 01i c.49+5G>T
  (Reported 2 times)
79+5G>T r.(?) p.(?) Hemizygous Aberrant splicing van den Hurk et al., 2003 - - CHM_00007 ChrX:g.85302483C>A
Intron 01i c.50-1G>C
  (Reported 2 times)
80-1G>C r.(?) p.(?) Hemizygous Aberrant splicing Fujiki et al., 1999 - - CHM_00008 ChrX:g.85282562C>G
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
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
Exon 02-04 c.50-?_314+?del
  (Reported 2 times)
80-?_334+?del r.? p.? Hemizygous - Freund et al., 2016 RFC2-4 - CHM_00267 ChrX:g.85233771-?_85282561+?del
Exon 02 c.82delT 112del r82del p.(Ser28Glnfs*32) Hemizygous - Cideciyan AV et al., 2015 - - CHM_00394 ChrX:g.85282529delA
Exon 02 c.104T>C
  (Reported 2 times)
134T>C r.104U>C p.(Leu35Pro) Hemizygous - Ramsden SC et al., 2013 - - CHM_00313 ChrX:g.85282507A>G
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
Intron 02i c.116+1G>A
  (Reported 4 times)
146+1G>A r.(?) p.(?) Hemizygous - Fujiki et al., 1999 - - CHM_00009 ChrX:g.85282494C>T
Intron 02i c.116+1G>C 146+1G>C r.(?) p.(?) Hemizygous - Freund et al., 2016 - - CHM_00353 ChrX:g.85282494C>G
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
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
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
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
Exon 03-08 c.117-?_1166+?del
  (Reported 4 times)
147-?_1196+?del r.? p.? Hemizygous - Mc Taggart et al., 2002 RFC3-8 - CHM_00101 ChrX:g.85211158-?_85236813+?del
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
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
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
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
Exon 03 c.124_133dup 154_163dup r.124_133dup p.(Gly45Valfs*10) Hemizygous - Seitz et al., 2015 - - CHM_00395 ChrX:g.85236797_85236806dup
Exon 03 c.126C>G 156C>G r.126C>G p.(Tyr42*) Hemizygous - Ramsden SC et al., 2013 - - CHM_00314 ChrX:g.85236804G>C
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
Exon 03 c.140G>A 170G>A r.(?) p.(Trp47*) Hemizygous - Fujiki et al., 1999 - - CHM_00011 ChrX:g.85236790C>T
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
Exon 03 c.167dupT 197dup r.167dup p.(Leu56Phefs*12) Hemizygous - Freund et al., 2016 - - CHM_00354 ChrX:g.85236763dupA
Exon 03 c.173G>A 203G>A r.173G>A p.(Trp58*) Hemizygous - Ramsden SC et al., 2013 - - CHM_00315 ChrX:g.85236757C>T
Exon 03 c.179delA 209del r.179del p.(Lys60Argfs*10) Hemizygous - Freund et al., 2016 - - CHM_00344 ChrX:g.85236751delT
Exon 03 c.184_189+3delTACCAGGTA 214_219+3delTACCAGGTA r.(?) p.(?) Hemizygous - Bae K et. al., 2017 - - CHM_00411 ChrX:g.85236738_85236746delTACCTGGTA
Intron 03i c.189+1 G>T 219+1G>T - - Hemizygous - Aleman TS et al., 2017 - - CHM_00285 ChrX:g.85236740C>A
Intron 03i c.189+1G>A
  (Reported 2 times)
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
Intron 03i c.189+1G>C 219+1G>C r.(?) p.(?) Hemizygous - Ramsden SC et al., 2013 - - CHM_00316 ChrX:g.85236740C>G
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
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
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
Exon 04 c.194del 224del r.194del p.(Asn65Thrfs*5) Hemizygous - - - - CHM_00269 ChrX:g.85233891del
Exon 04 c.224G>A 254G>A r.224G>A p.(Trp75*) Hemizygous - - - - CHM_00249 ChrX:g.85233831C>T
Exon 04 c.225G>A 255G>A r.225G>A p.(Trp75*) Hemizygous - Freund et al., 2016 - - CHM_00355 ChrX:g.85233860C>T
Exon 04 c.226C>T 256C>T r.(?) p.(Gln76*) Hemizygous - Villaverde et al., 2007 - - CHM_00015 ChrX:g.85233859G>A
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
Exon 04 c.232C>T 262C>T r.232C>U p.(Gln78*) Hemizygous - Freund et al., 2016 - - CHM_00251 ChrX:g.85233853G>A
Exon 04 c.265A>T
  (Reported 7 times)
295C>T r.(?) p.(Ser89Cys) Hemizygous recurrent, found 5 times Tarpey et al., 2009 rs145707160 MSV3d CHM_00003 ChrX:g.85233820T>A
Exon 04 c.282delT 312delT r.282del p.(Ile95Phefs*31) Hemizygous - Khan KN et al, 2016 - - CHM_00292 ChrX:g.85233803delA
Exon 04 c.293delT 323delT r.(?) p.(Val98Glyfs*28) Hemizygous - Beaufrère et al., 1997 - - CHM_00016 ChrX:g.85233792delA
Exon 04 c.309T>G 339T>G r.(?) p.(Tyr103*) Hemizygous - Villaverde et al., 2007 - - CHM_00017 ChrX:g.85233776A>C
Intron 04i c.315-4587T>A
  (Reported 2 times)
345-4587T>A r.314_315ins98 p.(?) Hemizygous Creation of a novel 3' splice site in intron 4 and causes the inclusion of 98 bp of intronic sequence into the CHM transcript. This cryptic exon contains a termination codon. Described as c.314+10127T>A van den Hurk et al., 2003 - - CHM_00019 ChrX:g.85223644A>T
Intron 04i c.315-1536A>G 345-1536A>G - p.Ser105Argfs*10 Hemizygous Results in the inclusion of a cryptic exon Carss KJ et al.,2017 - - CHM_00283 ChrX:g.85220593T>C
Exon 05 c.315-?_702+?del 345-?_732+?del r.? p.? Hemizygous - - RFC5-5 - CHM_00256 ChrX:g.85218670-?_85219057+?del
Exon 05-08 c.315-?_1166+?del
  (Reported 2 times)
345-?_1196+?del r.? p.? Hemizygous REP-1 not detected. Mc Taggart et al., 2002 RFC05-08 - CHM_00105 ChrX:g.85211158-?_85219057+?del
Exon 05 c.315_318del
  (Reported 4 times)
345_348del r.(?) p.(Ser105Argfs*20) Hemizygous - Fujiki et al., 1999 - - CHM_00018 ChrX:g.85219054_85219057del
Exon 05 c.316C>T 346C>T r.(?) p.(Gln106*) Hemizygous - Nesslinger et al., 1996 - - CHM_00020 ChrX:g.85219056G>A
Exon 05 c.351A>G
  (Reported 2 times)
381A>G r.(?) p.(=) Hemizygous recurrent, found 28 times - A117A Tarpey et al., 2009 rs10217950 - CHM_00004 ChrX:g.85219021T>C
Exon 05 c.372delT 402delT r.(?) p.(Val125*) Hemizygous - Itabashi et al., 2004 - - CHM_00021 ChrX:g.85219000delA
Exon 05 c.470_473del 500_503del r.470_473del p.(Gln157Leufs*10) Hemizygous - Dimopoulos IS et al., 2016 - - CHM_00271 ChrX:g.85218899_85218902del
Exon 05 c.492_493delGA
  (Reported 3 times)
522_523del r.492_493del p.(Asn165Cysfs*8) Hemizygous - Ramsden SC et al., 2013 - - CHM_00317 ChrX:g.85218879_85218880delTC
Exon 05 c.519_520delAG 549_550del r.519_520del p.(Glu173Aspfs*10) Hemizygous - Aleman TS et al., 2017 - - CHM_00294 ChrX:g.85218852_85218853delAG
Exon 05 c.525_526del
  (Reported 8 times)
555_556del r.(?) p.(Glu177Lysfs*6) Hemizygous - Itabashi et al., 2004 - - CHM_00022 ChrX:g.85218846_85218847del
Exon 05 c.529delG 559del r.(?) p.(Glu177Lysfs*20) Hemizygous - Mc Taggart et al., 2002 - - CHM_00024 ChrX:g.85218843del
Exon 05 c.529G>T 559G>T r.(?) p.(Glu177*) Hemizygous - Beaufrère et al., 1997 - - CHM_00023 ChrX:g.85218843C>A
Exon 05 c.535_538delGAAA
  (Reported 2 times)
565_568del r.535_538del p.(Glu179Thrfs*17) Hemizygous - Ramsden SC et al., 2013 - - CHM_00318 ChrX:g.85218834_85218837delTTTC
Exon 05 c.549_557delinsAGTTTTCT 579_587delinsAGTTTTCT r.(?) p.(Asp183Glufs*14) Hemizygous - Mc Taggart et al., 2002 - - CHM_00025 ChrX:g.85218815_85218823delinsAGAAAACT
Exon 05 c.551_552insGA 581_582insGA r.(?) p.(Asp184Glufs*14) Hemizygous - Esposito et al., 2011 - - CHM_00116 ChrX:g.85218820_85218821insTC
Exon 05 c.558_559delTT 588_589del r.558_559del p.(Val188Alafs*10) Hemizygous - Li S et al., 2014 - - CHM_00378 ChrX:g.85218813_85218814delAA
Exon 05 c.563_564del 593_594del r.(?) p.(Val188Alafs*10) Hemizygous - Mc Donald et al., 2004 - - CHM_00026 ChrX:g.85218808_85218809del
Exon 05 c.564_565del 594_595del r.(?) p.(Pro189Ilefs*9) Hemizygous - Fujiki et al., 1999 - - CHM_00027 ChrX:g.85218807_85218808del
Exon 05 c.569C>G 599C>G r.(?) p.(Ser190*) Hemizygous - Mc Taggart et al., 2002 - - CHM_00028 ChrX:g.85218803G>C
Exon 05 c.580_581delGA 610_611delGA r.580_581del p.(Glu194Argfs*4) Hemizygous - Aleman TS et al., 2017 - - CHM_00298 ChrX:g.85218791_85218792delTC
Exon 05 c.582dup 612dup r.(?) p.(Asp195Argfs*4) Hemizygous - van Bokhoven et al., 1994 - - CHM_00029 ChrX:g.85218790dup
Exon 05 c.613_614delGA 643_644delGA r.(613_614delga) p.(Asp205Tyrfs*17) Hemizygous Initially described as c.612delAG/ p.Glu204Glufsx18 Zhou et al., 2012 - - CHM_00133 ChrX:g.85218758_85218759delTC
Exon 05 c.616dupA 646dup r.616dup p.(Thr206Asnfs*17) Hemizygous - Seitz et al., 2015 - - CHM_00396 ChrX:g.85218756dupT
Exon 05 c.625C>T 655C>T r.(?) p.(Gln209*) Hemizygous - Fujiki et al., 1999 - - CHM_00030 ChrX:g.85218747G>A
Exon 05 c.627dup 657dup r.(?) p.(Pro210Thrfs*13) Hemizygous - Yip et al., 2007 - - CHM_00031 ChrX:g.85218745dup
Exon 05 c.641_642del 671_672del r.(?) p.(Arg214Asnfs*8) Hemizygous - Garcia-Hoyos et al., 2008 - - CHM_00032 ChrX:g.85218730_85218731del
Exon 05 c.645del 675del r.645del p.(Thr216Leufs*16) Hemizygous - Seitz et al., 2015 - - CHM_00400 ChrX:g.85218727del
Exon 05 c.649_652del 679_682delTACT r.(?) p.(Tyr217Hisfs*14) Hemizygous - van den Hurk et al., 2003 - - CHM_00033 ChrX:g.85218720_85218723del
Exon 05 c.652_655del
  (Reported 4 times)
682_685del r.(?) p.(Ser218Lysfs*13) Hemizygous - Mc Taggart et al., 2002 - - CHM_00034 ChrX:g.85218717_85218720del
Exon 05 c.653C>G 683C>G r.653C>G p.(Ser218*) Hemizygous - Freund et al., 2016 - - CHM_00247 ChrX:g.85218719G>C
Exon 05 c.655C>T 685C>T r.655C>U p.(Gln219*) Hemizygous - Simunovic MP et al., 2016 - - CHM_00348 ChrX:g.85218717G>A
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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.
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