Variant: rs397515360 

    present in Gene: CNGB3
    present in Chromosome: 8
    Position on Chromosome: 86643781
    Alleles of this Variant: G/-

rs397515360 in CNGB3 gene and Abnormality of the eye PMID 10888875 2000 Genetic basis of total colourblindness among the Pingelapese islanders.

rs397515360 in CNGB3 gene and Achromatopsia PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 15657609 2005 CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

PMID 10888875 2000 Genetic basis of total colourblindness among the Pingelapese islanders.

rs397515360 in CNGB3 gene and Achromatopsia 3 PMID 15657609 2005 CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

PMID 14757870 2004 Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.

PMID 12815043 2003 Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels.

PMID 17265047 2007 Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.

PMID 28795510 2017 CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.

PMID 23805033 2013 Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells.

rs397515360 in CNGB3 gene and Cone-Rod Dystrophies PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs397515360 in CNGB3 gene and Leber Congenital Amaurosis PMID 10888875 2000 Genetic basis of total colourblindness among the Pingelapese islanders.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs397515360 in CNGB3 gene and Retinal Dystrophies PMID 10888875 2000 Genetic basis of total colourblindness among the Pingelapese islanders.

rs397515360 in CNGB3 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.