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LOVD-USHBases

LOVD - Variant listings for MYO7A

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-/- Exon 03 c.47T>C
    + c.47T>C, c.1926G>A, c.4297delC, c.5392C>T
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0109802531 Usher type I (USH1) Roux et al., 2006 DNA SEQ Proband 1 Male FRANCE
-/- Exon 03 c.47T>C
    + 19 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 Besnard, Garcia-Garcia et al., 2014 - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0110202571 Usher type I (USH1) Roux et al., 2006 DNA SEQ Proband 1 Male FRANCE
-/- Exon 03 c.47T>C
    + c.47T>C, c.2513G>A, c.5632delC, c.6438+50A>T, c.6439-21A>C, c.6558+51G>T
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0110719011 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Male FRANCE
-/- Exon 03 c.47T>C
    + 35 others
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0114203261 Usher type I (USH1) Roux et al., 2006 DNA SEQ Proband 1 Male MOROCCO
-/- Exon 03 c.47T>C
    + 21 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0115404461 Usher type I (USH1) Roux et al., 2006 DNA Minigene, SEQ Proband 1 Male ALGERIA
-/- Exon 03 c.47T>C
    + 23 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0115504611 Usher type I (USH1) Roux et al., 2006 DNA SEQ Proband 1 Male FRANCE
-/- Exon 03 c.47T>C
    + 22 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0117903900 Usher type I (USH1) Roux et al., 2006 DNA SEQ Proband 1 Female FRANCE
-/- Exon 03 c.47T>C
    + 18 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0119404201 Usher type I (USH1) Blanchet et al., 2007 DNA SEQ Proband 1 Male FRANCE
-/- Exon 03 c.47T>C
    + 17 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0122604971 Usher type I (USH1) Roux et al., 2006 DNA SEQ Proband 1 Male ALGERIA
-/- Exon 03 c.47T>C
    + 25 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0129906030 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Female FRANCE
-/- Exon 03 c.47T>C
    + 22 others
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0131006320 Usher type I (USH1) Roux et al., 2006 DNA SEQ Proband 1 Female FRANCE
-/- Exon 03 c.47T>C
    + 37 others
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0132006371 Usher type I (USH1) Roux et al., 2006 DNA SEQ Proband 1 Male SENEGAL
-/- Exon 03 c.47T>C
    + 45 others
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0137509011 Usher type I (USH1) - DNA SEQ Proband 1 Male FRANCE
-/- Exon 03 c.47T>C
    + c.493A>G, c.5392C>T, c.6438+50A>T, c.6558+51G>T
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0137909060 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Female FRANCE
-/- Exon 03 c.47T>C
    + 20 others
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0138609240 Usher type I (USH1) Roux et al., 2006 DNA Minigene, SEQ Proband 1 Female FRANCE
-/- Exon 03 c.47T>C
    + 22 others
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0140710011 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Male NORTH AFRICA
-/- Exon 03 c.47T>C
    + 26 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0141110151 Usher type I (USH1) Le Guédard-Méreuze et al., 2010 DNA Minigene, SEQ Proband 1 Male FRANCE
-/- Exon 03 c.47T>C
    + 45 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0141910320 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Female FRANCE
-/- Exon 03 c.47T>C
    + 20 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0143710881 Usher type I (USH1) Roux et al., 2011 DNA Minigene, SEQ Proband 1 Male FRANCE
-/- Exon 03 c.47T>C
    + c.5004C>G, c.6025delG, c.6438+50A>T, c.6438+50A>T, c.6558+16G>A, c.6558+16G>A, c.6558+51G>T, c.6558+51G>T
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0157014970 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Female FRANCE
-/- Exon 03 c.47T>C
    + c.47T>C, c.5886_5888delCTT, c.5886_5888delCTT, c.6438+50A>T, c.6438+50A>T, c.6439-31G>A, c.6439-31G>A, c.6558+51G>A, c.6558+51G>A
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0159015470 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Female PAKISTAN
-/- Exon 03 c.47T>C
    + 27 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0159915721 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Male -
-/- Exon 03 c.47T>C
    + 25 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0175020570 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Female FRANCE
-/- Exon 03 c.47T>C
    + 16 others
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0400200012 Usher type I (USH1) Gerber et al., 2006 DNA SEQ Proband 1 - FRANCE
-/- Exon 03 c.47T>C
    + 10 others
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 SP0105500011 Usher type I (USH1) Najera et al., 2002 DNA SEQ Proband 1 Male SPAIN
-/- Exon 03 c.47T>C
    + c.285+73C>T, c.448C>T, c.1080+65T>C, c.3503G>C, c.3503+11_3503+32del22, c.3503+11_3503+32del22, c.3924+12C>T, c.3924+12C>T, c.5715A>G
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 SP01107600011 Usher type I (USH1) Jaijo et al., 2006 DNA SEQ Proband 1 Male SPAIN
-/- Exon 03 c.47T>C
    + 13 others
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 SP01115500011 Usher type I (USH1) Cuevas et al., 1999 DNA Minigene, RT-PCR, SEQ Proband - Minigene and Nasal cell studies in Aparisi et al., 2013 1 Male SPAIN
-/- Exon 03 c.47T>C
    + 17 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 SP01123800011 Usher type I (USH1) Jaijo et al., 2006 DNA Minigene, RT-PCR, SEQ Proband - Minigene and Nasal cell studies in Aparisi et al., 2013 1 Male SPAIN
-/- Exon 03 c.47T>C
    + 22 others
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 SP01125200010 Usher type I (USH1) Jaijo et al., 2007 DNA SEQ Proband 1 Female SPAIN
-/- Exon 03 c.47T>C
    + 15 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 SP01126900010 Usher type I (USH1) Jaijo et al., 2007 DNA SEQ Proband 1 Female ITALIA
-/- Exon 03 c.47T>C
    + 17 others
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 SP01134000011 Usher type I (USH1) Jaijo et al., 2007 DNA SEQ Proband 1 Male MOROCCO
-/- Exon 03 c.47T>C
    + 13 others
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 SP0117000010 Usher type I (USH1) Najera et al., 2002 DNA SEQ Proband 1 Female SPAIN
-/- Exon 03 c.47T>C
    + 17 others
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 SP0125000011 Usher type I (USH1) Najera et al., 2002 DNA SEQ Proband 1 Male SPAIN
-/- Exon 03 c.47T>C
    + 18 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 SP0128200050 Usher type I (USH1) Jaijo et al., 2006 DNA Minigene, SEQ Relative 1 Female SPAIN
-/- Exon 03 c.47T>C
    + 14 others
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 SP0137000021 Usher type I (USH1) Cuevas et al., 1998 DNA SEQ Proband 1 Male SPAIN
-/- Exon 03 c.47T>C
    + 16 others
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 SP0157200011 Usher type I (USH1) Najera et al., 2002 DNA SEQ Proband 1 Male SPAIN
-/- Exon 03 c.47T>C
    + 13 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 SP0162900011 Usher type I (USH1) Jaijo et al., 2006 DNA SEQ Proband 1 Male SPAIN
-/- Exon 03 c.47T>C
    + 14 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 SP0168900010 Usher type I (USH1) Jaijo et al., 2006 DNA SEQ Proband 1 Female SPAIN
-/- Exon 03 c.47T>C
    + c.285+73C>T, c.640G>A, c.1080+65T>C, c.1342_1343delAG, c.4755C>T, c.4755C>T, c.4996A>T, c.5715A>G, c.5715A>G
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 SP0193100011 Usher type I (USH1) Jaijo et al., 2006 DNA Minigene, SEQ Proband - Minigene studies in Aparisi et al., 2013 1 Male SPAIN
-/- Exon 03 c.47T>C
    + c.1563delC
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 Liu et al., 1997(2) - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 UK0100200012 Usher type I (USH1) Liu et al., 1997(2) DNA SEQ Proband 1 - U.K.
-/- Exon 03 c.47T>C
    + 14 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0137909071 Autosomal recessive deafness 2 (DFNB2) Roux et al., 2011 DNA SEQ Proband 1 Male FRANCE
-/- Exon 03 c.47T>C
    + c.47T>C, c.493A>G, c.3502C>T
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0137909080 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Female FRANCE
-/- Exon 03 c.47T>C
    + 12 others
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0164917521 Usher type I (USH1) Roux et al., 2011 DNA Minigene, SEQ Proband 1 Male FRANCE
-/- Exon 03 c.47T>C
    + c.47T>C, c.2513G>A, c.2513G>A
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0166217901 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Male FRANCE
-/- Exon 03 c.47T>C
    + 45 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0170019141 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Male FRANCE
-/- Exon 03 c.47T>C
    + c.47T>C, c.2461C>T, c.3764delA
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0170719381 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Male PORTUGAL
-/- Exon 03 c.47T>C
    + c.722G>A, c.6062A>G, c.6438+50A>T, c.6438+50A>T, c.6558+51G>T, c.6558+51G>T
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0177321100 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Female FRANCE
-/- Exon 03 c.47T>C
    + 34 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0177921170 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Female FRANCE
-/- Exon 03 c.47T>C
    + 29 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0180522031 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Male -
-/- Exon 03 c.47T>C
    + 54 others
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0181122211 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Male FRANCE
-/- Exon 03 c.47T>C
    + 11 others
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0174223700 Atypical Usher Roux et al., 2011 DNA SEQ Proband 1 Male -
-/- Exon 03 c.47T>C
    + 30 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 Besnard, Garcia-Garcia et al., 2014 - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0184223010 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Female FRANCE
-/- Exon 03 c.47T>C
    + 26 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 Besnard, Garcia-Garcia et al., 2014 - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0149512781 Usher type I (USH1) - DNA SEQ Proband 1 Male FRANCE
-/- Exon 03 c.47T>C
    + 30 others
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0176620822 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Female FRANCE
-/- Exon 03 c.47T>C
    + 14 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 Besnard, Garcia-Garcia et al., 2014 - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0181222221 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Male FRANCE
-/- Exon 03 c.47T>C
    + 41 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 Besnard, Garcia-Garcia et al., 2014 - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0189824881 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Male -
-/- Exon 03 c.47T>C
    + 17 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 Besnard, Garcia-Garcia et al., 2014 - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR0180321982 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Female FRANCE
-/- Exon 03 c.47T>C
    + c.1623dup, c.3764delA, GPR98 (2)
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 Le Quesne Stabej et al., 2012 Neutral - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 UK0344400012 Usher type I (USH1) Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON DNA SEQ Proband 1 - U.K.
-/- Exon 03 c.47T>C
    + c.47T>C, c.5619G>A, c.5619G>A, USH1C (2), USH2A (3), GPR98 (1)
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 Le Quesne Stabej et al., 2012 Neutral - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 UK0360700012 Usher type I (USH1) Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON DNA SEQ Proband 1 - U.K.
-/- Exon 03 c.47T>C
    + c.47T>C, c.5619G>A, c.5619G>A, USH1C (2), USH2A (3), GPR98 (1)
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 Le Quesne Stabej et al., 2012 Neutral - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 UK0360700012 Usher type I (USH1) Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON DNA SEQ Proband 1 - U.K.
-/- Exon 03 c.47T>C
    + 34 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 Besnard, Garcia-Garcia et al., 2014 - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 FR01108029701 Usher type I (USH1) Besnard, Garcia-Garcia et al., 2014 DNA SEQ, SEQ-NG-S Proband 1 Male -
-/- Exon 03 c.47T>C
    + 81 others
r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 Rong et al., 2014 non causative - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 CN06USH0100011 Usher type II (USH2) Rong et al., 2014 DNA SEQ, SEQ-NG-S Proband - variants found in samples of two affected brothers. They carry the same causative mutations in MYO7A, but other variants cannot be discriminated from the publication. 1 Male CHINA
-/- Exon 03 c.47T>C
    + 66 others
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 Rong et al., 2014 non causative - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 CN06USH0200010 Usher type I (USH1) Rong et al., 2014 DNA SEQ, SEQ-NG-S Proband 1 Female CHINA
-/- Exon 03 c.47T>C
    + 76 others
r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 Rong et al., 2014 non causative - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031 CN06USH0300010 Usher type I (USH1) Rong et al., 2014 DNA SEQ, SEQ-NG-S Proband 1 Male CHINA
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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.
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. 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. 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