MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: hearing impairment ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781893704
rs781893704
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1384666
Disease:
hearing impairment 		0.010 GeneticVariation BEFREE Targeted exome sequencing further identified the causal mutations in the remaining seven families: CIB2:c.97C > T; p.(Arg33*), MYO7A:c.470+1G > A; p.(?), and SLC26A4:c.410C > T; p.(Ser137Leu) biallelic mutations in two families each, and a TECTA:c.2743 A > G; p.(Ile915Val) monoallelic mutation in the only family with autosomal dominant transmission of the HI. 30055715 2018