Variant: rs114342808 

    present in Gene: CRB1
    present in Chromosome: 1
    Position on Chromosome: 197421404
    Alleles of this Variant: C/T

rs114342808 in CRB1 gene and LEBER CONGENITAL AMAUROSIS 8 PMID 18682808 2008 Molecular characterization of Leber congenital amaurosis in Koreans.

PMID 23462753 2013 Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.

PMID 28512305 2017 Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.

rs114342808 in CRB1 gene and RETINITIS PIGMENTOSA 12 (disorder) PMID 28512305 2017 Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.

PMID 23462753 2013 Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.

PMID 18682808 2008 Molecular characterization of Leber congenital amaurosis in Koreans.