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rs80357865

From SNPedia

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


Make rs80357865(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092169
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357865
ebirs80357865
HLIrs80357865
Exacrs80357865
Varsomers80357865
Maprs80357865
PheGenIrs80357865
hapmaprs80357865
1000 genomesrs80357865
hgdprs80357865
ensemblrs80357865
gopubmedrs80357865
geneviewrs80357865
scholarrs80357865
googlers80357865
pharmgkbrs80357865
gwascentralrs80357865
openSNPrs80357865
23andMers80357865
23andMe allrs80357865
SNP Nexus

SNPshotrs80357865
SNPdbers80357865
MSV3drs80357865
GWAS Ctlgrs80357865
Max Magnitude6
rs80357865, also known as 3481delA, c.3362_3362delA and p.Asn1121Ilefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357865(;)
Alt rs80357865(;)
Reference rs80357865(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.41244186delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048167.2, RCV000112080.1,