Variant: rs758316679

present in Gene: ABHD12 present in Chromosome: 20 Position on Chromosome: 25339350 Alleles of this Variant: G/A

rs758316679 in ABHD12 gene and Retinal Dystrophies PMID 22938382 2012 Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.