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rs80357957

From SNPedia

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


Make rs80357957(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093217
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357957
ebirs80357957
HLIrs80357957
Exacrs80357957
Varsomers80357957
Maprs80357957
PheGenIrs80357957
hapmaprs80357957
1000 genomesrs80357957
hgdprs80357957
ensemblrs80357957
gopubmedrs80357957
geneviewrs80357957
scholarrs80357957
googlers80357957
pharmgkbrs80357957
gwascentralrs80357957
openSNPrs80357957
23andMers80357957
23andMe allrs80357957
SNP Nexus

SNPshotrs80357957
SNPdbers80357957
MSV3drs80357957
GWAS Ctlgrs80357957
Max Magnitude6
rs80357957, also known as 2433delG, c.2314_2314delG and p.Val772Tyrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357957(;)
Alt rs80357957(;)
Reference rs80357957(G;G)
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.41245234delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047796.2, RCV000111823.1, RCV000132319.2,