Variant "CDKN2A:c.159G>C(p.Met53Ile)"
Search result: 1 record
Variant information
Gene:
CDKN2A 
Variant:
CDKN2A:c.159G>C(p.Met53Ile) 
Genomic location:
chr9:21971199(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001195132.1:c.159G>C(p.Met53Ile)
protein_coding NM_000077.4:c.159G>C(p.Met53Ile)
protein_coding NM_058195.3:c.202G>C(p.Asp68His)
protein_coding NM_058197.4:c.*82G>C
pseudogene NR_024274.1:n.*3446C>G
dbSNP ID:
rs104894095  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Melanoma (DOID_1909)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Pedigree analysis 
    Effect:
    Increased melanoma risk
    Reference:
    PMID15150307
    Title:
    Influence of genes, nevi, and sun sensitivity on melanoma risk in a family sample unselected by family history and in melanoma-prone families.
    Species studied:
    Human
    Abstract:
    Few family studies have investigated the effects of genetic, environmental, and host factors on melanoma risk, and most have been restricted to high-risk families. We assessed the role of these factors on melanoma risk in two types of families: families ascertained through melanoma probands but unselected by family history and melanoma-prone families.