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rs80357691

From SNPedia

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


Make rs80357691(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091006
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357691
ebirs80357691
HLIrs80357691
Exacrs80357691
Varsomers80357691
Maprs80357691
PheGenIrs80357691
hapmaprs80357691
1000 genomesrs80357691
hgdprs80357691
ensemblrs80357691
gopubmedrs80357691
geneviewrs80357691
scholarrs80357691
googlers80357691
pharmgkbrs80357691
gwascentralrs80357691
openSNPrs80357691
23andMers80357691
23andMe allrs80357691
SNP Nexus

SNPshotrs80357691
SNPdbers80357691
MSV3drs80357691
GWAS Ctlgrs80357691
Max Magnitude6
rs80357691, also known as 4241delTG, c.4122_4123delTG and p.Ser1374_Glu1375ArgAsnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357691(;)
Alt rs80357691(;)
Reference rs80357691(TG;TG)
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.41243023_41243024delCA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048451.2, RCV000112265.1,