Variant: rs104894559 

    present in Gene: CA4
    present in Chromosome: 17
    Position on Chromosome: 60150074
    Alleles of this Variant: C/T

rs104894559 in CA4 gene and Retinitis Pigmentosa PMID 15090652 2004 Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.

PMID 15563508 2005 Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.

rs104894559 in CA4 gene and Retinitis Pigmentosa 17 PMID 20450258 2010 Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients.

PMID 15563508 2005 Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.

PMID 17652713 2007 Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa.