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rs80357984

From SNPedia

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


Make rs80357984(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092690
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357984
ebirs80357984
HLIrs80357984
Exacrs80357984
Varsomers80357984
Maprs80357984
PheGenIrs80357984
hapmaprs80357984
1000 genomesrs80357984
hgdprs80357984
ensemblrs80357984
gopubmedrs80357984
geneviewrs80357984
scholarrs80357984
googlers80357984
pharmgkbrs80357984
gwascentralrs80357984
openSNPrs80357984
23andMers80357984
23andMe allrs80357984
SNP Nexus

SNPshotrs80357984
SNPdbers80357984
MSV3drs80357984
GWAS Ctlgrs80357984
Max Magnitude6
rs80357984, also known as 2959delAA, c.2840_2841delAA and p.Lys947Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357984(;)
Alt rs80357984(;)
Reference rs80357984(AA;AA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244707_41244708delTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047988.2, RCV000111949.1,