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rs80357706

From SNPedia

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


Make rs80357706(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093125
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357706
ebirs80357706
HLIrs80357706
Exacrs80357706
Varsomers80357706
Maprs80357706
PheGenIrs80357706
hapmaprs80357706
1000 genomesrs80357706
hgdprs80357706
ensemblrs80357706
gopubmedrs80357706
geneviewrs80357706
scholarrs80357706
googlers80357706
pharmgkbrs80357706
gwascentralrs80357706
openSNPrs80357706
23andMers80357706
23andMe allrs80357706
SNP Nexus

SNPshotrs80357706
SNPdbers80357706
MSV3drs80357706
GWAS Ctlgrs80357706
Max Magnitude6
rs80357706, also known as 2524delTG, c.2405_2406delTG and p.Val802Glufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357706(;)
Alt rs80357706(;)
Reference rs80357706(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,