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rs80357892

From SNPedia

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


Make rs80357892(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092165
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357892
ebirs80357892
HLIrs80357892
Exacrs80357892
Varsomers80357892
Maprs80357892
PheGenIrs80357892
hapmaprs80357892
1000 genomesrs80357892
hgdprs80357892
ensemblrs80357892
gopubmedrs80357892
geneviewrs80357892
scholarrs80357892
googlers80357892
pharmgkbrs80357892
gwascentralrs80357892
openSNPrs80357892
23andMers80357892
23andMe allrs80357892
SNP Nexus

SNPshotrs80357892
SNPdbers80357892
MSV3drs80357892
GWAS Ctlgrs80357892
Max Magnitude6
rs80357892, also known as 3484delCA, c.3365_3366delCA and p.Thr1122Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357892(;)
Alt rs80357892(;)
Reference rs80357892(CA;CA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41244182_41244183delTG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048168.2, RCV000112081.1, RCV000162863.1,