Variant: rs104894545 

    present in Gene: ACTG1
    present in Chromosome: 17
    Position on Chromosome: 81510824
    Alleles of this Variant: G/C

rs104894545 in ACTG1 gene and Deafness, Autosomal Dominant 20 PMID 13680526 2003 Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

PMID 19477959 2009 In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.

PMID 14684684 2003 A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).

PMID 18804074 2008 Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family.

PMID 25388789 2014 Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

PMID 22938506 2012 Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

PMID 16773128 2006 A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.