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rs80357815

From SNPedia

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


Make rs80357815(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092235
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357815
ebirs80357815
HLIrs80357815
Exacrs80357815
Varsomers80357815
Maprs80357815
PheGenIrs80357815
hapmaprs80357815
1000 genomesrs80357815
hgdprs80357815
ensemblrs80357815
gopubmedrs80357815
geneviewrs80357815
scholarrs80357815
googlers80357815
pharmgkbrs80357815
gwascentralrs80357815
openSNPrs80357815
23andMers80357815
23andMe allrs80357815
SNP Nexus

SNPshotrs80357815
SNPdbers80357815
MSV3drs80357815
GWAS Ctlgrs80357815
Max Magnitude6
rs80357815, also known as 3415delC, c.3296_3296delC and p.Pro1099Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357815(;)
Alt rs80357815(;)
Reference rs80357815(C;C)
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.41244252delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048129.2, RCV000112052.1,