Variant: rs122456133 

    present in Gene: CACNA1F
    present in Chromosome: X
    Position on Chromosome: 49228048
    Alleles of this Variant: C/T

rs122456133 in CACNA1F gene and NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A PMID 11281458 2001 A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.

PMID 9662399 1998 An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.

PMID 9662400 1998 Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.

PMID 22194652 2011 A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.

PMID 12111638 2002 Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.

PMID 12187427 2002 Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture).

PMID 15897456 2005 A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.