Variant "RP1:c.2615G>A(p.Arg872His)"
Search result: 1 record
Variant information
Gene:
RP1 
Variant:
RP1:c.2615G>A(p.Arg872His) 
Genomic location:
chr8:55539057(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_006269.1:c.2615G>A(p.Arg872His)
dbSNP ID:
rs444772  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Penetrance(1)  
Modifier effect:
Altered incidence(1)  
Detail：
  • Target disease:
    Retinitis Pigmentosa (DOID_10584)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    R872H in the RP1 gene was likely to be a protective factor for RP
    Reference:
    PMID16185528
    Title:
    Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong.
    Species studied:
    Human
    Abstract:
    To identify the mutation patterns of RHO and RP1 genes in the Chinese patients with retinitis pigmentosa (RP) and to explore their potential interactions in the pathogenesis of RP.