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rs80357999

From SNPedia

Merged intors80357706
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;TG) 6 BRCA1 variant considered pathogenic for breast cancer
(TG;TG) 0 common in clinvar


Make rs80357999(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093129
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357999
dbSNP (old)rs80357999
ClinGenrs80357999
ebirs80357999
HLIrs80357999
Exacrs80357999
Gnomadrs80357999
Varsomers80357999
Maprs80357999
PheGenIrs80357999
Biobankrs80357999
1000 genomesrs80357999
hgdprs80357999
ensemblrs80357999
gopubmedrs80357999
geneviewrs80357999
scholarrs80357999
googlers80357999
pharmgkbrs80357999
gwascentralrs80357999
openSNPrs80357999
23andMers80357999
23andMe allrs80357999
SNP Nexus

SNPshotrs80357999
SNPdbers80357999
MSV3drs80357999
GWAS Ctlgrs80357999
StatusMerged into rs80357706
Max Magnitude6
rs80357999, also known as 2520delTG, c.2401_2402delTG and p.Cys801=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk
Alt
Reference Rs80357999(TG;TG)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41245142_41245143delCA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047826.3, RCV000111844.2, RCV000162857.1,