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rs80357767

From SNPedia

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


Make rs80357767(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091737
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357767
ebirs80357767
HLIrs80357767
Exacrs80357767
Varsomers80357767
Maprs80357767
PheGenIrs80357767
hapmaprs80357767
1000 genomesrs80357767
hgdprs80357767
ensemblrs80357767
gopubmedrs80357767
geneviewrs80357767
scholarrs80357767
googlers80357767
pharmgkbrs80357767
gwascentralrs80357767
openSNPrs80357767
23andMers80357767
23andMe allrs80357767
SNP Nexus

SNPshotrs80357767
SNPdbers80357767
MSV3drs80357767
GWAS Ctlgrs80357767
Max Magnitude6
rs80357767, also known as 3913delA, c.3794_3794delA and p.Asn1265Ilefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357767(;)
Alt rs80357767(;)
Reference rs80357767(A;A)
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.41243754delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048335.2, RCV000112188.1,