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rs80357254

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 Normal
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357254(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091663
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357254
ebirs80357254
HLIrs80357254
Exacrs80357254
Varsomers80357254
Maprs80357254
PheGenIrs80357254
hapmaprs80357254
1000 genomesrs80357254
hgdprs80357254
ensemblrs80357254
gopubmedrs80357254
geneviewrs80357254
scholarrs80357254
googlers80357254
pharmgkbrs80357254
gwascentralrs80357254
openSNPrs80357254
23andMers80357254
23andMe allrs80357254
SNP Nexus

SNPshotrs80357254
SNPdbers80357254
MSV3drs80357254
GWAS Ctlgrs80357254
Max Magnitude6
rs80357254, also known as K1290X, c.3868A>T and p.Lys1290Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357254(G,T;G,T)
Alt rs80357254(G,T;G,T)
Reference rs80357254(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41243680T>A; NC_000017.10:g.41243680T>C
CLNSRC ClinVar
CLNACC RCV000031135.4, RCV000048361.2, RCV000077134.2, RCV000159983.1, RCV000218431.1, RCV000234532.1,