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.