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rs80357535

From SNPedia

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


Make rs80357535(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094276
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357535
ebirs80357535
HLIrs80357535
Exacrs80357535
Varsomers80357535
Maprs80357535
PheGenIrs80357535
hapmaprs80357535
1000 genomesrs80357535
hgdprs80357535
ensemblrs80357535
gopubmedrs80357535
geneviewrs80357535
scholarrs80357535
googlers80357535
pharmgkbrs80357535
gwascentralrs80357535
openSNPrs80357535
23andMers80357535
23andMe allrs80357535
SNP Nexus

SNPshotrs80357535
SNPdbers80357535
MSV3drs80357535
GWAS Ctlgrs80357535
Max Magnitude6
rs80357535, also known as 1374delG, c.1255_1255delG and p.Val419Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357535(;)
Alt rs80357535(;)
Reference rs80357535(G;G)
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.41246293delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047395.2, RCV000111574.2,