Variant: rs777849213 

    present in Gene: HK1
    present in Chromosome: 10
    Position on Chromosome: 69398758
    Alleles of this Variant: G/A

rs777849213 in HK1 gene and RETINITIS PIGMENTOSA 79 PMID 25190649 2014 A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.

PMID 26427411 2016 Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).

PMID 25316723 2014 A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa.

PMID 28765615 2017 The phenotypic variability of HK1-associated retinal dystrophy.