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LOVD-USHBases

LOVD - Variant listings for MYO7A

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Patient data (#0004996)
Patient ID FR02M2667312
Disease Usher type I (USH1)
Reference Bonnet et al., 2016, France:Paris
Template DNA
Technique SEQ, SEQ-NG-S
Remarks Proband
# Reported 1
Gender -
Geographic origin FRANCE
Submitter Crystel Bonnet

Variant data
Allele Parent #2
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Pathogenic
Location Exon
Exon 7
DNA change c.722G>A   (View in UCSC Genome Browser, Ensembl)
RNA change r.(?)
Protein p.(Arg241His)
Protein Domain Motor domain (1-729)
Inheritance Heterozygous
Variant remarks UV3
dbSNP/RFC rs111033286
Reference Bonnet et al., 2016
Reported effect / publication mutation
Frequency -
Missense USMA MSV3d
HSF HSF
Re-site -
DB-ID MYO7A_00284

2 entries in MYO7A

Path.
Allele Descending
Ascending
Location Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Protein Domain Descending
Ascending
Inheritance Descending
Ascending
Variant remarks Descending
Ascending
dbSNP/RFC Descending
Ascending
Reference Descending
Ascending
Reported effect / publication Descending
Ascending
Frequency Descending
Ascending
Missense Descending
Ascending
HSF Descending
Ascending
Re-site Descending
Ascending
DB-ID Descending
Ascending
+?/+ Parent #2 Exon 7 c.722G>A r.(?) p.(Arg241His) Motor domain (1-729) Heterozygous UV3 rs111033286 Bonnet et al., 2016 mutation - USMA MSV3d HSF - MYO7A_00284
+/+ Parent #1 Exon 43 c.5916G>A r.(?) p.(Trp1972*) FERM2 (1902-2205) Heterozygous Pathogenic - Bonnet et al., 2016 mutation - - HSF - MYO7A_00563