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LOVD-USHBases

LOVD - Variant listings for MYO7A

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5' Gene flanking 00 c.-4128C>T r.(?) p.(?) - Heterozygous UV1 - modifier: binds YY1 which reduces expression of MYO7A. Described in trans of a DFNA11 allele, increases the severity of the phenotype. rs10899353 Street et al., 2011 Modifier - - - +BccI;-BsmBI;-BceAI;-BsmAI; MYO7A_00357
5' UTR 00 c.-272-2051C>T r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - +BfaI;+AvrII;+StyI;-PspGI;-BssKI;-ScrFI; MYO7A_00411
5' UTR 00 c.-272-1986C>G r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - +MnlI;+HphI;-DdeI;-BspCNI;-AluI;-CviKI_1; MYO7A_00422
Exon 01-37 c.-272-?_5168+213del r.(?) p.(?) Motor domain (1-729), IQ 1 (745-765), IQ 2 (768-788), IQ 3 (791-811), IQ 4 (814-834), IQ 5 (837-857), Coiled coil (858-935), MyTH4 1 (1017-1253), FERM 1 (1258-1602), SH3 (1603-1672) Heterozygous Pathogenic RFC1-37 Roux et al., 2011 - - - - - MYO7A_00125
Intron 01i c.-46-2A>G r.(?) p.(?) - Heterozygous Pathogenic - Le Quesne Stabej et al., 2012 Pathogenic 0/878 controls - HSF +AciI;-PstI;-HpyCH4V;-SfcI; MYO7A_00468
Intron 01i c.19-1G>A r.? p.? - Heterozygous Pathogenic rs111033426 Bujakowska et al., 2014 - - - HSF - MYO7A_00535
Exon 02 c.6_9dup
  (Reported 3 times)		 r.(?) p.(Leu4Aspfs*39) - Heterozygous Pathogenic - Jaijo et al., 2006 - - - HSF none MYO7A_00164
Intron 02i c.19-2A>G r.(?) p.(?) - Heterozygous Pathogenic - Jacobson et al., 2009 - - - HSF - MYO7A_00214
Exon 03 c.33G>A r.(?) p.(Trp11*) - Heterozygous Pathogenic - Weston et al., 1996 - - - HSF - MYO7A_00158
Exon 03 c.47T>A r.(?) p.(Leu16*) - Heterozygous Pathogenic - Janecke et al., 1999 - - - HSF - MYO7A_00258
Exon 03 c.47T>C
  (Reported 91 times)		 r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031
Exon 03 c.52C>T
  (Reported 17 times)		 r.(?) p.(Gln18*) - Homozygous Pathogenic - Zhou et al., 2012 Pathogenic - - HSF - MYO7A_00279
Exon 03 c.54G>C r.(?) p.(Gln18His) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 UV1 1/852 controls USMA MSV3d HSF +BssSI;+BaeGI;+Bsp1286I; MYO7A_00469
Exon 03 c.73G>A
  (Reported 8 times)		 r.(?) p.(Gly25Arg) Motor domain (1-729) Heterozygous Pathogenic - Levy et al., 1997 - 0/100 controls USMA MSV3d HSF none MYO7A_00134
Exon 03 c.77C>A
  (Reported 6 times)		 r.(?) p.(Ala26Glu) - Heterozygous Pathogenic - Jaijo et al., 2007 - - USMA MSV3d HSF - MYO7A_00168
Exon 03 c.93C>A
  (Reported 13 times)		 r.(?) p.(Cys31*) - Homozygous Pathogenic rs35689081 Janecke et al., 1999 - - - HSF +Hpy188I;+BsmAI;+DdeI;+BspCNI; MYO7A_00012
Intron 03i c.133-7C>T
  (Reported 5 times)		 r.(=) p.(=) - Heterozygous UV1 rs111033221 Le Quesne Stabej et al., 2012 UV1 0/96 controls - HSF -FauI;-NlaIV; MYO7A_00382
Intron 03i c.133-2A>G
  (Reported 4 times)		 r.(?) p.(?) - Heterozygous Pathogenic - Liu et al., 1997 - - - HSF +BstUI;+SacII;+BsaJI;+MspA1I;+BtgI; MYO7A_00200
Exon 3 c.703T>G r.(?) p.(Tyr235Asp) Motor domain (1-729) Heterozygous UV3 - Bonnet et al., 2016 mutation - USMA MSV3d HSF - MYO7A_00586
Exon 4 c.183delC
  (Reported 2 times)		 r.(?) p.(Thr62Argfs*9) Motor domain (1-729) Heterozygous Pathogenic rs782261543 Bonnet et al., 2016 mutation - - HSF - MYO7A_00557
Exon 04 c.199G>A r.(?) p.(Val67Met) Motor domain (1-729) Heterozygous UV3 - Bharadwaj et al., 2000 - - USMA MSV3d HSF - MYO7A_00220
Exon 04 c.223delG
  (Reported 5 times)		 r.(?) p.(Asp75Thrfs*31) Motor domain (1-729) Heterozygous Pathogenic - Weston et al., 1996 - - - HSF - MYO7A_00001
Exon 04 c.223G>C r.(?) p.(Asp75His) Motor domain (1-729) Heterozygous UV3 - Le Quesne Stabej et al., 2012 UV4 0/878 controls USMA MSV3d HSF BaeGI;+BanI;+Bsp1286I;-EcoO109I;-BslI;-AvaII; MYO7A_00381
Exon 04 c.252C>G
  (Reported 2 times)		 r.(?) p.(Asn84Lys) Motor domain (1-729) Homozygous UV3 - Riazuddin et al., 2008 - 0/192 controls USMA MSV3d HSF - MYO7A_00237
Exon 4 c.262C>T r.(?) p.(Arg88Cys) Motor domain (1-729) Heterozygous UV3 - Bonnet et al., 2016 mutation - USMA MSV3d HSF - MYO7A_00593
Exon 04 c.269G>C r.(?) p.(Arg90Pro) Motor domain (1-729) Heterozygous UV3 - Bharadwaj et al., 2000 - 0/172 controls USMA MSV3d HSF - MYO7A_00221
Exon 04 c.284A>G r.(?) p.(Tyr95Cys) Motor domain (1-729) Heterozygous UV3 - Bujakowska et al., 2014 - - USMA MSV3d HSF - MYO7A_00531
Intron 04i c.285+57C>T r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF +BccI;-MnlI; MYO7A_00451
Intron 04i c.285+73C>T
  (Reported 14 times)		 r.(=) p.(=) - Heterozygous Neutral rs4074664 - - - - HSF - MYO7A_00290
Intron 04i c.285+91C>A
  (Reported 2 times)		 r.(=) p.(=) - Homozygous Neutral - - - - - HSF - MYO7A_00065
Exon 5 c.397dupC r.(?) p.(His133Profs*7) Motor domain (1-729) Heterozygous Pathogenic rs111033187 Bonnet et al., 2016 mutation - - HSF - MYO7A_00364
Exon 05 c.288G>A
  (Reported 4 times)		 r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs56023295 Le Quesne Stabej et al., 2012 Neutral 14/874 controls - HSF -Hpy166II;-HpyCH4IV;-BstZ17I;-AccI; MYO7A_00393
Exon 05 c.338_348dup r.(?) p.(Glu117Serfs*33) Motor domain (1-729) Heterozygous Pathogenic - Le Quesne Stabej et al., 2012 Pathogenic - - HSF +BccI MYO7A_00470
Exon 05 c.358delC
  (Reported 2 times)		 r.(?) p.(Arg120Alafs*26) Motor domain (1-729) Heterozygous Pathogenic - Pennings et al., 2004 - - - HSF - MYO7A_00153
Exon 05 c.359G>A r.(?) p.(Arg120His) Motor domain (1-729) Heterozygous UV2 - Le Quesne Stabej et al., 2012 UV1 0/878 controls USMA MSV3d HSF -EciI;-AciI; MYO7A_00454
Exon 05 c.360delC r.(?) p.(Gln121Serfs*25) Motor domain (1-729) Heterozygous Pathogenic - Weston et al., 1996 - - - HSF - MYO7A_00148
Exon 05 c.395C>T
  (Reported 3 times)		 r.(?) p.(Pro132Leu) Motor domain (1-729) Homozygous Pathogenic - Jaijo et al., 2007 - 0/100 controls USMA MSV3d HSF - MYO7A_00172
Exon 05 c.397C>G r.(?) p.(His133Asp) Motor domain (1-729) Heterozygous UV3 - Roux et al., 2006 - 0/352 controls USMA MSV3d HSF +BcgI MYO7A_00018
Exon 05 c.397C>T
  (Reported 2 times)		 r.(?) p.(His133Tyr) Motor domain (1-729) Heterozygous UV3 rs111033403 Roux et al., 2011 - - USMA MSV3d HSF - MYO7A_00272
Exon 05 c.397dup r.(?) p.(His133Profs*7) Motor domain (1-729) Heterozygous Pathogenic. Described as c.390_391insC. - Wei et al., 2012 Pathogenic 0/200 controls - HSF none MYO7A_00478
Exon 05 c.397dupC
  (Reported 3 times)		 r.(?) p.(His133Profs*7) Motor domain (1-729) Homozygous Pathogenic rs111033187 Bonnet et al., 2011 Pathogenic - - HSF none MYO7A_00364
Exon 05 c.399dup
  (Reported 2 times)		 r.(?) p.(Ile134Hisfs*6) Motor domain (1-729) Homozygous Pathogenic - Riazuddin et al., 2008 - 0/192 controls - HSF - MYO7A_00240
Exon 05 c.401T>A r.(?) p.(Ile134Asn) Motor domain (1-729) Heterozygous UV3 rs111033181 Bharadwaj et al., 2000 - 0/172 controls USMA MSV3d HSF - MYO7A_00222
Exon 05 c.448C>T
  (Reported 9 times)		 r.(?) p.(Arg150*) Motor domain (1-729) Heterozygous Pathogenic rs121965079 Levy et al., 1997 - - - HSF +PvuII;+DdeI;+BspCNI;+AluI;+MspA1I;-BcgI; MYO7A_00129
Exon 05 c.462C>A
  (Reported 9 times)		 r.(?) p.(Cys154*) Motor domain (1-729) Heterozygous Pathogenic - Gao et al., 2014 mutation 0/438 controls - HSF - MYO7A_00513
Intron 05i c.470+1G>A
  (Reported 6 times)		 r.(?) p.(?) - Homozygous Pathogenic - Adato et al., 1997 - - - HSF - MYO7A_00192
Intron 05i c.470+43T>C
  (Reported 2 times)		 r.(=) p.(=) - Heterozygous UV1 rs61899977 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF +NlaIV;-BfaI; MYO7A_00389
Intron 05i c.470+96C>T
  (Reported 3 times)		 r.(=) p.(=) - Homozygous Neutral rs55880704 - - - - HSF - MYO7A_00102
Intron 05i c.471-1G>A
  (Reported 2 times)		 r.(?) p.(?) - Homozygous Pathogenic - Riazuddin et al., 2008 - 0/192 controls - HSF - MYO7A_00247
Exon 06 c.470G>A r.(?) p.(Ser157Asn) Motor domain (1-729) Heterozygous UV4 - was shown in Aparisi et al., 2013 to affect splicing (p.(Thr96Trpfs*29)) RFC06-06 Jaijo et al., 2006 Exon skipping (Aparisi et al., 2013) - USMA MSV3d HSF - MYO7A_00188
Exon 06 c.472G>A r.(?) p.(Gly158Arg) Motor domain (1-729), ATP binding site (158-165) Heterozygous UV3 - Besnard, Garcia-Garcia et al., 2014 - - USMA MSV3d HSF -BtsI;-TspRI; MYO7A_00480
Exon 06 c.487G>A
  (Reported 5 times)		 r.(?) p.(Gly163Arg) Motor domain (1-729), ATP binding site (158-165) Homozygous UV4 - Roux et al., 2006 - 0/664 controls USMA MSV3d HSF +BstNI;+PspGI;-HpaII;-NciI;-MspI; MYO7A_00099
Exon 06 c.487G>C
  (Reported 2 times)		 r.(?) p.(Gly163Arg) Motor domain (1-729), ATP binding site (158-165) Heterozygous UV4 - Roux et al., 2006 - 0/664 controls USMA MSV3d HSF - MYO7A_00073
Exon 06 c.490A>T
  (Reported 2 times)		 r.(?) p.(Lys164*) Motor domain (1-729) Homozygous Pathogenic - Bonnet et al., 2011 Pathogenic - - HSF +Hpy166II;+AccI;-BbsI;-MboII; MYO7A_00363
Exon 06 c.491A>G
  (Reported 2 times)		 r.(?) p.(Lys164Arg) Motor domain (1-729), ATP binding site (158-165) Homozygous UV3 - Roux et al., 2006 - 0/664 controls USMA MSV3d HSF - MYO7A_00067
Exon 06 c.492G>C r.(?) p.(Lys164Asn) Motor domain (1-729), ATP binding site (158-165) Heterozygous UV3 - Jacobson et al., 2009 - - USMA MSV3d HSF - MYO7A_00204
Exon 06 c.493A>G
  (Reported 2 times)		 r.(?) p.(Thr165Ala) Motor domain (1-729), ATP binding site (158-165) Heterozygous UV3 - Roux et al., 2011 - 0/664 controls USMA MSV3d HSF - MYO7A_00103
Exon 06 c.494C>T
  (Reported 15 times)		 r.(?) p.(Thr165Met) Motor domain (1-729), ATP binding site (158-165) Heterozygous Pathogenic rs111033174 Roux et al., 2006 - 0/664 controls USMA MSV3d HSF - MYO7A_00078
Exon 06 c.495G>A r.(?) p.(=) Motor domain (1-729) Heterozygous UV1 - Le Quesne Stabej et al., 2012 UV1 - - HSF none MYO7A_00459
Exon 06 c.496delG
  (Reported 7 times)		 r.(?) p.(Glu166Argfs*5) Motor domain (1-729), ATP binding site (158-165) Homozygous Pathogenic rs111033448 Riazuddin et al., 2008 - 0/192 controls - HSF - MYO7A_00235
Exon 06 c.510G>A r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs34477144 - - - - HSF - MYO7A_00077
Exon 06 c.581_582delCC
  (Reported 2 times)		 r.(?) p.(Pro194Hisfs*14) Motor domain (1-729) Homozygous Pathogenic - Rong et al., 2014 causative 0/200 controls - HSF - MYO7A_00516
Exon 06 c.592G>A
  (Reported 2 times)		 r.[592g>a, 471_592del] p.[Ala198Thr, Gly158Ilefs*9] Motor domain (1-729) Heterozygous UV4 - Roux et al., 2006 E6 skipping (Le Guédard-Méreuze et al., 2010) 0/664 controls - HSF -HpyAV MYO7A_00072
Intron 06i c.592+1G>T
  (Reported 2 times)		 r.(?) p.(?) - Heterozygous Pathogenic - Jacobson et al., 2008 - - - HSF -HpyAV MYO7A_00252
Intron 06i c.593-5C>T
  (Reported 3 times)		 r.(?) p.(?) - Heterozygous UV2 rs762666 - - - - HSF +PstI;+HpyCH4V;+SfcI;-AciI; MYO7A_00298
Exon 07 c.610A>G r.(?) p.(Thr204Ala) Motor domain (1-729) Heterozygous UV4 - Roux et al., 2006 - 0/352 controls USMA MSV3d HSF +PhoI;+HaeIII;+BsaJI;+StyI;+CviKI_1; MYO7A_00087
Exon 07 c.616C>T
  (Reported 2 times)		 r.(?) p.(Arg206Cys) Motor domain (1-729) Heterozygous UV3 - Mao-Chang Su et al., 2009 - 0/200 controls USMA MSV3d HSF - MYO7A_00006
Exon 07 c.617G>A r.(?) p.(Arg206His) Motor domain (1-729) Heterozygous UV3 - Mao-Chang Su et al., 2009 - 0/200 controls USMA MSV3d HSF - MYO7A_00007
Exon 07 c.629C>G
  (Reported 2 times)		 r.(?) p.(Ser210*) Motor domain (1-729) Homozygous Pathogenic - Jaijo et al., 2006 - - - HSF - MYO7A_00162
Exon 07 c.634C>T
  (Reported 8 times)		 r.(?) p.(Arg212Cys) Motor domain (1-729) Heterozygous Pathogenic rs121965080 Weston et al., 1996 - 0/192 controls USMA MSV3d HSF - MYO7A_00002
Exon 07 c.635G>A
  (Reported 18 times)		 r.(?) p.(Arg212His) Motor domain (1-729) Homozygous Pathogenic rs28934610 Weston et al., 1996 - 0/192 controls USMA MSV3d HSF -BceAI MYO7A_00004
Exon 07 c.640G>A
  (Reported 19 times)		 r.(?) p.(Gly214Arg) Motor domain (1-729) Heterozygous Pathogenic rs111033283 Roux et al., 2011 - - USMA MSV3d HSF none MYO7A_00118
Exon 07 c.652G>A
  (Reported 2 times)		 r.(?) p.(=) Motor domain (1-729) Heterozygous UV3 - Sun et al., 2011 Pathogenic 0/200 controls USMA MSV3d HSF -TaqI MYO7A_00355
Exon 07 c.652_657del
  (Reported 2 times)		 r.(?) p.(Asp218_Ile219del) Motor domain (1-729) Heterozygous Pathogenic - Levy et al., 1997 - - - HSF - MYO7A_00128
Exon 07 c.655_660del
  (Reported 2 times)		 r.(?) p.(Ile219_His220del) Motor domain (1-729) Homozygous UV3 - Jaijo et al., 2007 Pathogenic 0/100 controls - HSF - MYO7A_00174
Exon 07 c.676G>A r.(?) p.(Ala226Thr) Motor domain (1-729) Heterozygous UV3 - Poster: Program Nr: 2263 from the 2000 ASHG Annual Meeting - Mena et al. - - USMA MSV3d HSF - MYO7A_00157
Exon 07 c.687C>T r.(?) p.(?) Motor domain (1-729) Heterozygous UV3 - Besnard, Garcia-Garcia et al., 2014 - - - HSF -BstUI MYO7A_00490
Exon 07 c.689C>T
  (Reported 11 times)		 r.(?) p.(Ala230Val) Motor domain (1-729) Heterozygous Pathogenic - Di Leva et al., 2006 - 0/200 controls USMA MSV3d HSF - MYO7A_00143
Exon 07 c.700C>T
  (Reported 6 times)		 r.(?) p.(Gln234*) Motor domain (1-729) Heterozygous Pathogenic rs41298133 Levy et al., 1997 - - - HSF -MwoI;-AlwNI;-BstAPI; MYO7A_00131
Exon 07 c.707T>A r.(?) p.(Leu236Gln) Motor domain (1-729) Heterozygous UV3 - Aparisi et al., 2014 UV3 - USMA MSV3d HSF - MYO7A_00524
Exon 07 c.710T>G r.(?) p.(Leu237Arg) Motor domain (1-729) Heterozygous UV4 - Baux, Vaché et al., 2017 - - USMA MSV3d - - MYO7A_00599
Exon 07 c.721C>A r.(?) p.(Arg241Ser) Motor domain (1-729) Heterozygous Pathogenic - Janecke et al., 1999 - 0/60 controls USMA MSV3d HSF - MYO7A_00253
Exon 07 c.721C>G
  (Reported 14 times)		 r.(?) p.(Arg241Gly) Motor domain (1-729) Heterozygous Pathogenic - Jaijo et al., 2007 - 0/100 controls USMA MSV3d HSF - MYO7A_00170
Exon 07 c.721C>T
  (Reported 4 times)		 r.(?) p.(Arg241Cys) Motor domain (1-729) Heterozygous Pathogenic - Bharadwaj et al., 2000 - 0/172 controls USMA MSV3d HSF - MYO7A_00223
Exon 07 c.722G>A
  (Reported 3 times)		 r.(?) p.(Arg241His) Motor domain (1-729) Heterozygous UV3 rs111033284 Roux et al., 2011 - 0/180 controls USMA MSV3d HSF +NspI;+FatI;+NlaIII;-HpyCH4IV;-PmlI;-BsaAI; MYO7A_00284
Exon 07 c.722G>C
  (Reported 2 times)		 r.(?) p.(Arg241Pro) Motor domain (1-729) Heterozygous UV3 - Le Quesne Stabej et al., 2012 UV4 0/878 controls USMA MSV3d HSF +HphI;-HpyCH4IV;-PmlI;-AflIII;-BsaAI; MYO7A_00397
Exon 07 c.726delC
  (Reported 2 times)		 r.(?) p.(Cys243Valfs*20) Motor domain (1-729) Homozygous Pathogenic - Assoc Res Otolaryngol Abs, p. 46, 1998 - Weston et al., 1998 - 0/192 controls - HSF - MYO7A_00203
Exon 07 c.731G>C
  (Reported 6 times)		 r.(?) p.(Arg244Pro) Motor domain (1-729) Homozygous Pathogenic rs121965081 Liu et al., 1997 - 0/120 controls USMA MSV3d HSF - MYO7A_00198
Intron 07i c.735+46C>T r.(=) p.(=) - Heterozygous Neutral - - - - - HSF +BsmAI;+BsaI;-MnlI;-PhoI;-HaeIII;-Bsu36I; MYO7A_00085
Intron 07i c.735+75G>A
  (Reported 2 times)		 r.(=) p.(=) - Homozygous Neutral - - - - - HSF - MYO7A_00268
Intron 07i c.736-47C>A
  (Reported 6 times)		 r.(=) p.(=) - Heterozygous Neutral rs3737454 Besnard, Garcia-Garcia et al., 2014 - - - HSF -BseRI MYO7A_00095
Intron 07i c.736-4ins12 r.(=) p.(=) - Heterozygous Neutral - - - - - HSF - MYO7A_00076
Exon 08 c.755A>G r.(?) p.(Tyr252Cys) Motor domain (1-729) Heterozygous Pathogenic - Gerber et al., 2006 - 0/200 controls USMA MSV3d HSF - MYO7A_00140
Exon 08 c.783T>C
  (Reported 67 times)		 r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047
Exon 08 c.803A>G
  (Reported 2 times)		 r.(?) p.(Lys268Arg) Motor domain (1-729) Heterozygous UV2 - - - - USMA MSV3d HSF +MnlI;+EarI; MYO7A_00297
Exon 08 c.805_807delAAG
  (Reported 3 times)		 r.(?) p.(Lys269del) Motor domain (1-729) Heterozygous UV3 - Bharadwaj et al., 2000 - - - HSF none MYO7A_00228
Exon 08 c.834C>A
  (Reported 2 times)		 r.(?) p.(Tyr278*) Motor domain (1-729) Homozygous Pathogenic - Reddy et al., 2014 mutation - - HSF - MYO7A_00518
Intron 08i c.849+7C>G r.(=) p.(=) - Heterozygous UV2 - Besnard, Garcia-Garcia et al., 2014 - - - HSF +BglI;+MwoI;+SfiI; MYO7A_00489
Intron 08i c.850-127C>T
  (Reported 2 times)		 r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF +TspRI;-MwoI;-HinP1I;-HaeII;-HhaI; MYO7A_00398
Intron 08i c.850-82T>C r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF +NlaIV;+BanII;+ApaI;+BaeGI;+PspOMI;+Bsp1286I; MYO7A_00417
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Legend: [ MYO7A 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. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Protein Domain: Protein Domain Inheritance: Type of inheritance (e.g. heterozygous) Variant remarks: Integrates Classification: Neutral - UV1 (certainly neutral) - UV2 (likely neutral) - UV3 (likely pathogenic) - UV4 (certainly pathogenic) - Pathogenic. Except for CHM where annotations concerning the effect of the variant are mentioned instead.

dbSNP/RFC: Accession number (rs) in dbSNP or link to reading frame checker Reference: Reference describing the variation Reported effect / publication: Original classification reported by the authors. Frequency: Frequency (control chromosomes) Missense: Create a link for USMA and/or MSV3d HSF: Direct link to HSF Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. MYO7A DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

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