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rs80357740

From SNPedia

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


Make rs80357740(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093054
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357740
ebirs80357740
HLIrs80357740
Exacrs80357740
Varsomers80357740
Maprs80357740
PheGenIrs80357740
hapmaprs80357740
1000 genomesrs80357740
hgdprs80357740
ensemblrs80357740
gopubmedrs80357740
geneviewrs80357740
scholarrs80357740
googlers80357740
pharmgkbrs80357740
gwascentralrs80357740
openSNPrs80357740
23andMers80357740
23andMe allrs80357740
SNP Nexus

SNPshotrs80357740
SNPdbers80357740
MSV3drs80357740
GWAS Ctlgrs80357740
Max Magnitude6
rs80357740, also known as 2596delC, c.2477_2477delC and p.Thr826Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357740(;)
Alt rs80357740(;)
Reference rs80357740(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.41245071delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047854.2, RCV000111875.1,