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rs80357082

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357082(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093496
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357082
ebirs80357082
HLIrs80357082
Exacrs80357082
Varsomers80357082
Maprs80357082
PheGenIrs80357082
hapmaprs80357082
1000 genomesrs80357082
hgdprs80357082
ensemblrs80357082
gopubmedrs80357082
geneviewrs80357082
scholarrs80357082
googlers80357082
pharmgkbrs80357082
gwascentralrs80357082
openSNPrs80357082
23andMers80357082
23andMe allrs80357082
SNP Nexus

SNPshotrs80357082
SNPdbers80357082
MSV3drs80357082
GWAS Ctlgrs80357082
Max Magnitude6
rs80357082, also known as K679X, c.2035A>T and p.Lys679Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357082(T;T)
Alt rs80357082(T;T)
Reference rs80357082(A;A)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome not provided Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41245513T>A
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000047689.3, RCV000074569.6, RCV000077505.5, RCV000131904.2,