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rs80357826

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;TC) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357826(-;-)
Make rs80357826(TC;TC)
ReferenceGRCh38 38.1/142
Chromosome17
Position43074411
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357826
ebirs80357826
HLIrs80357826
Exacrs80357826
Varsomers80357826
Maprs80357826
PheGenIrs80357826
hapmaprs80357826
1000 genomesrs80357826
hgdprs80357826
ensemblrs80357826
gopubmedrs80357826
geneviewrs80357826
scholarrs80357826
googlers80357826
pharmgkbrs80357826
gwascentralrs80357826
openSNPrs80357826
23andMers80357826
23andMe allrs80357826
SNP Nexus

SNPshotrs80357826
SNPdbers80357826
MSV3drs80357826
GWAS Ctlgrs80357826
Max Magnitude6
rs80357826, also known as 4713insTC, c.4594_4595insTC and p.Val1532?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357826(CT;CT)
Alt rs80357826(CT;CT)
Reference rs80357826(;)
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.41226427_41226428insAG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048601.2, RCV000112361.1,