Variant: rs180729424 

    present in Gene: RP1
    present in Chromosome: 8
    Position on Chromosome: 54621481
    Alleles of this Variant: T/C;G

rs180729424 in RP1 gene and RETINITIS PIGMENTOSA 1 PMID 11095597 2000 RP1 protein truncating mutations predominate at the RP1 adRP locus.

PMID 20664799 2010 Differential pattern of RP1 mutations in retinitis pigmentosa.

PMID 22052604 2012 RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.

PMID 15863674 2005 Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa.

PMID 10391211 1999 Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa.

PMID 22334370 2012 Next-generation genetic testing for retinitis pigmentosa.

PMID 15933747 2006 A novel missense RP1 mutation in retinitis pigmentosa.

PMID 10484783 1999 Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.

PMID 19956407 2009 Molecular characterization of retinitis pigmentosa in Saudi Arabia.