Variant "RNASEL:c.793G>T(p.Glu265*)"
Search result: 1 record
Variant information
Gene:
RNASEL 
Variant:
RNASEL:c.793G>T(p.Glu265*) 
Genomic location:
chr1:182555149(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_021133.3:c.793G>T(p.Glu265*)
protein_coding 4G8L:A_233-A_265:NM_021133.3:c.793G>T
protein_coding 4G8L:B_233-B_265:NM_021133.3:c.793G>T
protein_coding 4G8L:C_233-C_265:NM_021133.3:c.793G>T
protein_coding 4G8L:D_233-D_265:NM_021133.3:c.793G>T
protein_coding 4OAU:C_233-C_265:NM_021133.3:c.793G>T
protein_coding 4OAV:B_233-B_265:NM_021133.3:c.793G>T
protein_coding 4OAV:D_233-D_265:NM_021133.3:c.793G>T
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dbSNP ID:
rs74315364  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered onset time(1)  
Detail：
  • Target disease:
    Breast Cancer (DOID_1612)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered onset time 
    Evidence:
    Pedigree analysis 
    Effect:
    That RNASEL:p.Glu265* may be a genetic modifier of risk for early-onset breast cancer predisposition in carriers of high-risk mutations.
    Reference:
    PMID29422015
    Title:
    Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations
    Species studied:
    Human
    Abstract:
    Breast cancer risk for BRCA1 and BRCA2 pathogenic mutation carriers is modified by risk factors that cluster in families, including genetic modifiers of risk. We considered genetic modifiers of risk for carriers of high-risk mutations in other breast cancer susceptibility genes.