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rs80356971

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs80356971(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092133
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356971
ebirs80356971
HLIrs80356971
Exacrs80356971
Varsomers80356971
Maprs80356971
PheGenIrs80356971
hapmaprs80356971
1000 genomesrs80356971
hgdprs80356971
ensemblrs80356971
gopubmedrs80356971
geneviewrs80356971
scholarrs80356971
googlers80356971
pharmgkbrs80356971
gwascentralrs80356971
openSNPrs80356971
23andMers80356971
23andMe allrs80356971
SNP Nexus

SNPshotrs80356971
SNPdbers80356971
MSV3drs80356971
GWAS Ctlgrs80356971
Max Magnitude6
rs80356971, also known as L1133X, c.3398T>A and p.Leu1133Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356971(A,C,G;A,C,G)
Alt rs80356971(A,C,G;A,C,G)
Reference rs80356971(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations not provided
Reversed 1
HGVS NC_000017.10:g.41244150A>C; NC_000017.10:g.41244150A>G; NC_000017.10:g.41244150A>T
CLNSRC ClinVar
CLNACC RCV000048177.2, RCV000162045.1, RCV000219552.1, RCV000048176.2, RCV000112086.1, RCV000236540.1,