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rs80359882

From SNPedia

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


Make rs80359882(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091791
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80359882
ebirs80359882
HLIrs80359882
Exacrs80359882
Varsomers80359882
Maprs80359882
PheGenIrs80359882
hapmaprs80359882
1000 genomesrs80359882
hgdprs80359882
ensemblrs80359882
gopubmedrs80359882
geneviewrs80359882
scholarrs80359882
googlers80359882
pharmgkbrs80359882
gwascentralrs80359882
openSNPrs80359882
23andMers80359882
23andMe allrs80359882
SNP Nexus

SNPshotrs80359882
SNPdbers80359882
MSV3drs80359882
GWAS Ctlgrs80359882
Max Magnitude6
rs80359882, also known as 3841del19, c.3722_3740del and p.Ser1241_Val1247?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359882(;)
Alt rs80359882(;)
Reference rs80359882(CTACTAGGCATAGCACCGT;CTACTAGGCATAGCACCGT)
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.41243808_41243826del19
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048304.2, RCV000112165.1,