present in Gene: CNGB1
present in Chromosome: 16
Position on Chromosome: 57897913
Alleles of this Variant: C/A;T
rs121918532 in
CNGB1 gene and
RETINITIS PIGMENTOSA 45
PMID 11379879 2001 Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa.