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LOVD-USHBases

LOVD - Variant listings for MYO7A

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RNA change Hide RNA change column Descending
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HSF Hide HSF column Descending
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-/- Exon 08 c.783T>C
    + 19 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0110202571 Usher type I (USH1) Roux et al., 2006 DNA SEQ Proband 1 Male FRANCE
-/- Exon 08 c.783T>C
    + 57 others
r.(?) p.(=) Motor domain (1-729) Homozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0110502600 Usher type I (USH1) Roux et al., 2011 DNA, RNA RT-PCR, SEQ Proband 1 Female FRANCE
-/- Exon 08 c.783T>C
    + 35 others
r.(?) p.(=) Motor domain (1-729) Homozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0114203261 Usher type I (USH1) Roux et al., 2006 DNA SEQ Proband 1 Male MOROCCO
-/- Exon 08 c.783T>C
    + 21 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0115404461 Usher type I (USH1) Roux et al., 2006 DNA Minigene, SEQ Proband 1 Male ALGERIA
-/- Exon 08 c.783T>C
    + 16 others
r.(?) p.(=) Motor domain (1-729) Homozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0117803891 Usher type I (USH1) Roux et al., 2006 DNA SEQ Proband 1 Male FRANCE
-/- Exon 08 c.783T>C
    + 22 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0117903900 Usher type I (USH1) Roux et al., 2006 DNA SEQ Proband 1 Female FRANCE
-/- Exon 08 c.783T>C
    + 41 others
r.(?) p.(=) Motor domain (1-729) Homozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0121004691 Usher type I (USH1) Roux et al., 2006 DNA SEQ Proband 1 Male FRANCE
-/- Exon 08 c.783T>C
    + 25 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0129906030 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Female FRANCE
-/- Exon 08 c.783T>C
    + 22 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0131006320 Usher type I (USH1) Roux et al., 2006 DNA SEQ Proband 1 Female FRANCE
-/- Exon 08 c.783T>C
    + 37 others
r.(?) p.(=) Motor domain (1-729) Homozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0132006371 Usher type I (USH1) Roux et al., 2006 DNA SEQ Proband 1 Male SENEGAL
-/- Exon 08 c.783T>C
    + 22 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0140710011 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Male NORTH AFRICA
-/- Exon 08 c.783T>C
    + 26 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0141110151 Usher type I (USH1) Le Guédard-Méreuze et al., 2010 DNA Minigene, SEQ Proband 1 Male FRANCE
-/- Exon 08 c.783T>C
    + 39 others
r.(?) p.(=) Motor domain (1-729) Homozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0150613231 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Male FRANCE
-/- Exon 08 c.783T>C
    + 29 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0152013611 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Male FRANCE
-/- Exon 08 c.783T>C
    + 16 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0400200012 Usher type I (USH1) Gerber et al., 2006 DNA SEQ Proband 1 - FRANCE
-/- Exon 08 c.783T>C
    + 24 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0400700012 Usher type I (USH1) Gerber et al., 2006 DNA SEQ Proband 1 - FRANCE
-/- Exon 08 c.783T>C
    + 11 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 Luijendijk et al., 2004 polymorphism - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 NL0101120010 Autosomal dominant deafness 11 (DFNA11) Luijendijk et al., 2004 DNA SEQ Proband 1 Female NETHERLAND
-/- Exon 08 c.783T>C
    + 13 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 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 08 c.783T>C
    + 17 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 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 08 c.783T>C
    + 22 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 SP01125200010 Usher type I (USH1) Jaijo et al., 2007 DNA SEQ Proband 1 Female SPAIN
-/- Exon 08 c.783T>C
    + 14 others
r.(?) p.(=) Motor domain (1-729) Homozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 SP01126400010 Usher type I (USH1) Jaijo et al., 2007 DNA SEQ Proband 1 Female ITALIA
-/- Exon 08 c.783T>C
    + 20 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 SP01126800010 Usher type I (USH1) Jaijo et al., 2007 DNA SEQ Proband 1 Female ITALIA
-/- Exon 08 c.783T>C
    + 15 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 SP01126900010 Usher type I (USH1) Jaijo et al., 2007 DNA SEQ Proband 1 Female ITALIA
-/- Exon 08 c.783T>C
    + 18 others
r.(?) p.(=) Motor domain (1-729) Homozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 SP01127100012 Usher type I (USH1) Jaijo et al., 2007 DNA Minigene, SEQ Proband - Minigene studies in Aparisi et al., 2013 1 - ITALIA
-/- Exon 08 c.783T>C
    + 17 others
r.(?) p.(=) Motor domain (1-729) Homozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 SP01134000011 Usher type I (USH1) Jaijo et al., 2007 DNA SEQ Proband 1 Male MOROCCO
-/- Exon 08 c.783T>C
    + 12 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 SP01143600011 Usher type I (USH1) Jaijo et al., 2007 DNA SEQ Proband 1 Male SPAIN
-/- Exon 08 c.783T>C
    + 17 others
r.(?) p.(=) Motor domain (1-729) Homozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 SP01146200011 Usher type I (USH1) Jaijo et al., 2007 DNA SEQ Proband 1 Male ITALIA
-/- Exon 08 c.783T>C
    + 13 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 SP0117000010 Usher type I (USH1) Najera et al., 2002 DNA SEQ Proband 1 Female SPAIN
-/- Exon 08 c.783T>C
    + 18 others
r.(?) p.(=) Motor domain (1-729) Homozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 SP0128200050 Usher type I (USH1) Jaijo et al., 2006 DNA Minigene, SEQ Relative 1 Female SPAIN
-/- Exon 08 c.783T>C
    + 14 others
r.(?) p.(=) Motor domain (1-729) Homozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 SP0137000021 Usher type I (USH1) Cuevas et al., 1998 DNA SEQ Proband 1 Male SPAIN
-/- Exon 08 c.783T>C
    + 16 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 SP0157200011 Usher type I (USH1) Najera et al., 2002 DNA SEQ Proband 1 Male SPAIN
-/- Exon 08 c.783T>C
    + 14 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 SP0166800011 Usher type I (USH1) Najera et al., 2002 DNA SEQ Proband 1 Male SPAIN
-/- Exon 08 c.783T>C
    + 16 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 SP0187900010 Usher type I (USH1) Najera et al., 2002 DNA SEQ Proband 1 Female SPAIN
-/- Exon 08 c.783T>C
    + 39 others
r.(?) p.(=) Motor domain (1-729) Homozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0155014430 Usher type I (USH1) Le Guédard-Méreuze et al., 2010 DNA Minigene, SEQ Proband 1 Female ALGERIA
-/- Exon 08 c.783T>C
    + 39 others
r.(?) p.(=) Motor domain (1-729) Homozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0159715710 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Female TUNISIA
-/- Exon 08 c.783T>C
    + 51 others
r.(?) p.(=) Motor domain (1-729) Homozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0161315971 Usher type I (USH1) Ammar-Khodja et al., 2009 DNA SEQ Proband 1 Male ALGERIA
-/- Exon 08 c.783T>C
    + 43 others
r.(?) p.(=) Motor domain (1-729) Homozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0161816021 Usher type I (USH1) Ammar-Khodja et al., 2009 DNA SEQ Proband 1 Male ALGERIA
-/- Exon 08 c.783T>C
    + 45 others
r.(?) p.(=) Motor domain (1-729) Homozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0170019141 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Male FRANCE
-/- Exon 08 c.783T>C
    + 34 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0177921170 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Female FRANCE
-/- Exon 08 c.783T>C
    + c.803A>G, c.1080+65T>C, c.2095-22G>A, c.3924+12C>T, c.5743-12T>C, c.5856+50G>A, c.6051+17T>A
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 SP0168600011 - DNA SEQ Proband 1 Male SPAIN
-/- Exon 08 c.783T>C
    + 29 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0180522031 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Male -
-/- Exon 08 c.783T>C
    + 26 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0149512781 Usher type I (USH1) - DNA SEQ Proband 1 Male FRANCE
-/- Exon 08 c.783T>C
    + 30 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0190925161 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Male FRANCE
-/- Exon 08 c.783T>C
    + 36 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0165317631 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Male FRANCE
-/- Exon 08 c.783T>C
    + 41 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0189824881 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Male -
-/- Exon 08 c.783T>C
    + 17 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0180321982 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Female FRANCE
-/- Exon 08 c.783T>C
    + 16 others
r.(?) p.(=) Motor domain (1-729) Homozygous Neutral rs762667 Le Quesne Stabej et al., 2012 Neutral - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 UK0307900012 Usher type I (USH1) Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON DNA SEQ Proband 1 - U.K.
-/- Exon 08 c.783T>C
    + 16 others
r.(?) p.(=) Motor domain (1-729) Homozygous Neutral rs762667 Le Quesne Stabej et al., 2012 Neutral - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 UK0307900012 Usher type I (USH1) Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON DNA SEQ Proband 1 - U.K.
-/- Exon 08 c.783T>C
    + 34 others
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR01108029701 Usher type I (USH1) Besnard, Garcia-Garcia et al., 2014 DNA SEQ, SEQ-NG-S Proband 1 Male -
-/- Exon 08 c.783T>C
    + c.736-47C>A, c.849+7C>G
r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047 FR0103700110 Non-syndromic Deafness (DFN) Besnard, Garcia-Garcia et al., 2014 DNA SEQ, SEQ-NG-S Proband 1 Female -
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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