Variant "GUCY2D:c.2512C>T(p.Arg838Cys)"
Search result: 1 record
Variant information
Gene:
GUCY2D 
Variant:
GUCY2D:c.2512C>T(p.Arg838Cys) 
Genomic location:
chr17:7918018(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000180.3:c.2512C>T(p.Arg838Cys)
dbSNP ID:
rs61750172  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered RPE change(1)  
Detail：
  • Target disease:
    Cone-Rod Dystrophy (DOID_0050572)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered RPE change 
    Evidence:
    Pedigree analysis 
    Effect:
    Modify the phenotype
    Reference:
    PMID17041576
    Title:
    Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1.
    Species studied:
    Human
    Abstract:
    To describe the phenotype of members of a large Caucasian British family affected by autosomal dominant cone-rod dystrophy due to an R838C mutation in the guanylate cyclase 2D (GUCY2D) gene encoding retinal guanylate cyclase-1 (RETGC-1).