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rs80357918

From SNPedia

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


Make rs80357918(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091661
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357918
ebirs80357918
HLIrs80357918
Exacrs80357918
Varsomers80357918
Maprs80357918
PheGenIrs80357918
hapmaprs80357918
1000 genomesrs80357918
hgdprs80357918
ensemblrs80357918
gopubmedrs80357918
geneviewrs80357918
scholarrs80357918
googlers80357918
pharmgkbrs80357918
gwascentralrs80357918
openSNPrs80357918
23andMers80357918
23andMe allrs80357918
SNP Nexus

SNPshotrs80357918
SNPdbers80357918
MSV3drs80357918
GWAS Ctlgrs80357918
Max Magnitude6
rs80357918, also known as 3988delAA, c.3869_3870delAA and p.Lys1290Metfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357918(;)
Alt rs80357918(;)
Reference rs80357918(AA;AA)
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.41243678_41243679delTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048362.2, RCV000112206.2, RCV000213665.1,