GUCA1A, guanylate cyclase activator 1A, 2978

N. diseases: 55; N. variants: 8
Disease: RETINAL CONE DYSTROPHY 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893968
rs104893968
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
CUI: C1867326
Disease:
RETINAL CONE DYSTROPHY 1 		0.020 GeneticVariation BEFREE Missense mutations in GCAP1 (Y99C, I143NT, E155G, and P50L) have been associated with autosomal dominant cone dystrophy. 15336959 2004
dbSNP: rs104893968
rs104893968
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
CUI: C1867326
Disease:
RETINAL CONE DYSTROPHY 1 		0.020 GeneticVariation BEFREE Here, detailed analysis of biochemical properties of GCAP1(P50L), which causes a milder form of autosomal dominant cone dystrophy than constitutive active Y99C mutation, showed that the P50L mutation resulted in a decrease of Ca(2+)-binding, without changes in the GC activity profile of the mutant GCAP1. 11108966 2000