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rs80357639

From SNPedia

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


Make rs80357639(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43099802
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357639
ebirs80357639
HLIrs80357639
Exacrs80357639
Varsomers80357639
Maprs80357639
PheGenIrs80357639
hapmaprs80357639
1000 genomesrs80357639
hgdprs80357639
ensemblrs80357639
gopubmedrs80357639
geneviewrs80357639
scholarrs80357639
googlers80357639
pharmgkbrs80357639
gwascentralrs80357639
openSNPrs80357639
23andMers80357639
23andMe allrs80357639
SNP Nexus

SNPshotrs80357639
SNPdbers80357639
MSV3drs80357639
GWAS Ctlgrs80357639
Max Magnitude6
rs80357639, also known as 639delC, c.520_520delC and p.Gln174Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357639(;)
Alt rs80357639(;)
Reference rs80357639(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41251819delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048862.2, RCV000112725.2, RCV000222355.1,