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rs80357638

From SNPedia

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


Make rs80357638(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093514
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357638
ebirs80357638
HLIrs80357638
Exacrs80357638
Varsomers80357638
Maprs80357638
PheGenIrs80357638
hapmaprs80357638
1000 genomesrs80357638
hgdprs80357638
ensemblrs80357638
gopubmedrs80357638
geneviewrs80357638
scholarrs80357638
googlers80357638
pharmgkbrs80357638
gwascentralrs80357638
openSNPrs80357638
23andMers80357638
23andMe allrs80357638
SNP Nexus

SNPshotrs80357638
SNPdbers80357638
MSV3drs80357638
GWAS Ctlgrs80357638
Max Magnitude6
rs80357638, also known as 2136delG, c.2017_2017delG and p.Glu673Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357638(;)
Alt rs80357638(;)
Reference rs80357638(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.41245531delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047684.2, RCV000111752.1,