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rs80357896

From SNPedia

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


Make rs80357896(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43067647
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357896
ebirs80357896
HLIrs80357896
Exacrs80357896
Varsomers80357896
Maprs80357896
PheGenIrs80357896
hapmaprs80357896
1000 genomesrs80357896
hgdprs80357896
ensemblrs80357896
gopubmedrs80357896
geneviewrs80357896
scholarrs80357896
googlers80357896
pharmgkbrs80357896
gwascentralrs80357896
openSNPrs80357896
23andMers80357896
23andMe allrs80357896
SNP Nexus

SNPshotrs80357896
SNPdbers80357896
MSV3drs80357896
GWAS Ctlgrs80357896
Max Magnitude6
rs80357896, also known as 5154delC, c.5035_5035delC and p.Leu1679Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357896(;)
Alt rs80357896(;)
Reference rs80357896(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not specified
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not specified
Reversed 1
HGVS NC_000017.10:g.41219664delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048743.3, RCV000112469.1, RCV000238807.1,