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rs80357377

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357377(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092770
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357377
ebirs80357377
HLIrs80357377
Exacrs80357377
Varsomers80357377
Maprs80357377
PheGenIrs80357377
hapmaprs80357377
1000 genomesrs80357377
hgdprs80357377
ensemblrs80357377
gopubmedrs80357377
geneviewrs80357377
scholarrs80357377
googlers80357377
pharmgkbrs80357377
gwascentralrs80357377
openSNPrs80357377
23andMers80357377
23andMe allrs80357377
SNP Nexus

SNPshotrs80357377
SNPdbers80357377
MSV3drs80357377
GWAS Ctlgrs80357377
Max Magnitude6
rs80357377, also known as Q921X, c.2761C>T and p.Gln921Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357377(T;T)
Alt rs80357377(T;T)
Reference rs80357377(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41244787G>A
CLNSRC ClinVar
CLNACC RCV000047961.2, RCV000111933.1, RCV000221485.1,