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rs80357223

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357223(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092731
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357223
ebirs80357223
HLIrs80357223
Exacrs80357223
Varsomers80357223
Maprs80357223
PheGenIrs80357223
hapmaprs80357223
1000 genomesrs80357223
hgdprs80357223
ensemblrs80357223
gopubmedrs80357223
geneviewrs80357223
scholarrs80357223
googlers80357223
pharmgkbrs80357223
gwascentralrs80357223
openSNPrs80357223
23andMers80357223
23andMe allrs80357223
SNP Nexus

SNPshotrs80357223
SNPdbers80357223
MSV3drs80357223
GWAS Ctlgrs80357223
Max Magnitude6
rs80357223, also known as Q934X, c.2800C>T and p.Gln934Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357223(T;T)
Alt rs80357223(T;T)
Reference rs80357223(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed 1
HGVS NC_000017.10:g.41244748G>A
CLNSRC ClinVar
CLNACC RCV000047973.2, RCV000077528.4, RCV000236201.1,