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rs80357021

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 Normal
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357021(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091516
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357021
ebirs80357021
HLIrs80357021
Exacrs80357021
Varsomers80357021
Maprs80357021
PheGenIrs80357021
hapmaprs80357021
1000 genomesrs80357021
hgdprs80357021
ensemblrs80357021
gopubmedrs80357021
geneviewrs80357021
scholarrs80357021
googlers80357021
pharmgkbrs80357021
gwascentralrs80357021
openSNPrs80357021
23andMers80357021
23andMe allrs80357021
SNP Nexus

SNPshotrs80357021
SNPdbers80357021
MSV3drs80357021
GWAS Ctlgrs80357021
Max Magnitude6
rs80357021, also known as E1339X, c.4015G>T and p.Glu1339Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357021(A,T;A,T)
Alt rs80357021(A,T;A,T)
Reference rs80357021(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not specified
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not specified
Reversed 1
HGVS NC_000017.10:g.41243533C>A; NC_000017.10:g.41243533C>T
CLNSRC ClinVar
CLNACC RCV000031140.4, RCV000048409.2, RCV000162870.1, RCV000159985.1,