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LOVD-USHBases

LOVD - Variant listings for MYO7A

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+/+ Exon 07 c.640G>A
    + 45 others
r.(?) p.(Gly214Arg) Motor domain (1-729) Heterozygous Pathogenic rs111033283 Roux et al., 2011 - - USMA MSV3d HSF none MYO7A_00118 FR0141910320 Usher type I (USH1) Roux et al., 2011 DNA SEQ Proband 1 Female FRANCE
+/+ Exon 07 c.640G>A
    + c.640G>A
r.(?) p.(Gly214Arg) Motor domain (1-729) Homozygous Pathogenic rs111033283 Adato et al., 1997 - 0/200 controls USMA MSV3d HSF none MYO7A_00118 MA0101000012 Usher type I (USH1) Adato et al., 1997 DNA SEQ Proband 1 - MOROCCO
+?/? Exon 07 c.640G>A
    + c.2476G>A
r.(?) p.(Gly214Arg) Motor domain (1-729) Heterozygous Pathogenic rs111033283 Adato et al., 1997 - 0/200 controls USMA MSV3d HSF none MYO7A_00118 MA0101000022 Usher type I (USH1) Adato et al., 1997 DNA SEQ Proband 1 - MOROCCO
+/+ Exon 07 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Heterozygous Pathogenic rs111033283 Jaijo et al., 2010 - - USMA MSV3d HSF none MYO7A_00118 SP01154000012 Usher TypeII Jaijo et al., 2010 DNA SEQ Proband 1 - SPAIN
+/+ Exon 07 c.640G>A
    + c.640G>A
r.(?) p.(Gly214Arg) Motor domain (1-729) Homozygous Pathogenic rs111033283 Jaijo et al., 2010 - - USMA MSV3d HSF none MYO7A_00118 SP01173800012 Usher type I (USH1) Jaijo et al., 2010 DNA SEQ Proband 1 - SPAIN
+/+ Exon 07 c.640G>A
    + 14 others
r.(?) p.(Gly214Arg) Motor domain (1-729) Heterozygous Pathogenic rs111033283 Jaijo et al., 2006 - - USMA MSV3d HSF none MYO7A_00118 SP0191900011 Usher type I (USH1) Najera et al., 2002 DNA SEQ Proband 1 Male SPAIN
+/+ Exon 07 c.640G>A
    + c.47T>C, c.285+73C>T, c.1080+65T>C, c.1342_1343delAG, c.4755C>T, c.4755C>T, c.4996A>T, c.5715A>G, c.5715A>G
r.(?) p.(Gly214Arg) Motor domain (1-729) Heterozygous Pathogenic rs111033283 Jaijo et al., 2006 - - USMA MSV3d HSF none MYO7A_00118 SP0193100011 Usher type I (USH1) Jaijo et al., 2006 DNA Minigene, SEQ Proband - Minigene studies in Aparisi et al., 2013 1 Male SPAIN
+/+ Exon 07 c.640G>A
    + 13 others
r.(?) p.(Gly214Arg) Motor domain (1-729) Heterozygous Pathogenic rs111033283 Jaijo et al., 2006 - - USMA MSV3d HSF none MYO7A_00118 SP0198600011 Usher type I (USH1) Jaijo et al., 2006 DNA Minigene, SEQ Proband 1 Male SPAIN
+/+ Exon 07 c.640G>A
    + c.640G>A
r.(?) p.(Gly214Arg) Motor domain (1-729) Homozygous Pathogenic rs111033283 Riazuddin et al., 2008 - - USMA MSV3d HSF none MYO7A_00118 US0500800012 Usher type I (USH1) Riazuddin et al., 2008 DNA SEQ Proband 1 - PAKISTAN
+/+ Exon 07 c.640G>A
    + c.640G>A
r.(?) p.(Gly214Arg) Motor domain (1-729) Homozygous Pathogenic rs111033283 Riazuddin et al., 2008 - - USMA MSV3d HSF none MYO7A_00118 US0516100012 Usher type I (USH1) Riazuddin et al., 2008 DNA SEQ Proband 1 - PAKISTAN
+/+ Exon 07 c.640G>A
    + c.635G>A, GPR98 (1), WHRN (1), USH2A (1), USH1C (1)
r.(?) p.(Gly214Arg) Motor domain (1-729) Heterozygous Pathogenic rs111033283 Le Quesne Stabej et al., 2012 Pathogenic 0/878 controls USMA MSV3d HSF none MYO7A_00118 UK0306800012 Usher type I (USH1) Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON DNA SEQ Proband 1 - U.K.
+/+ Exon 07 c.640G>A
    + c.2005C>T, CDH23 (1)
r.(?) p.(Gly214Arg) Motor domain (1-729) Heterozygous Pathogenic rs111033283 Bujakowska et al., 2014 - - USMA MSV3d HSF none MYO7A_00118 US02022-0932 Usher type I (USH1) Bujakowska et al., 2014 DNA SEQ, SEQ-NG-S Proband 1 - U.S.A.
+/+ Exon 07 c.640G>A
    + c.6355-2A>G
r.(?) p.(Gly214Arg) Motor domain (1-729) Heterozygous Pathogenic rs111033283 Bujakowska et al., 2014 - - USMA MSV3d HSF none MYO7A_00118 US02022-1172 Usher type I (USH1) Bujakowska et al., 2014 DNA SEQ, SEQ-NG-S Proband 1 - U.S.A.
+/+ Exon 7 c.640G>A
    + c.1307T>C
r.(?) p.(Gly214Arg) Motor domain (1-729) Heterozygous Pathogenic rs111033283 Bonnet et al., 2016 mutation - USMA MSV3d HSF - MYO7A_00388 FR02M073092 Usher type I (USH1) Bonnet et al., 2016, France:Paris DNA SEQ, SEQ-NG-S Proband 1 - FRANCE
+/+ Exon 7 c.640G>A
    + c.133-2A>G
r.(?) p.(Gly214Arg) Motor domain (1-729) Heterozygous Pathogenic rs111033283 Bonnet et al., 2016 mutation - USMA MSV3d HSF - MYO7A_00388 FR02M0814048991 Usher type I (USH1) Bonnet et al., 2016, France:Paris DNA SEQ, SEQ-NG-S Proband 1 Male FRANCE
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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