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rs80357529

From SNPedia

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


Make rs80357529(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43091018
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357529
ebirs80357529
HLIrs80357529
Exacrs80357529
Varsomers80357529
Maprs80357529
PheGenIrs80357529
hapmaprs80357529
1000 genomesrs80357529
hgdprs80357529
ensemblrs80357529
gopubmedrs80357529
geneviewrs80357529
scholarrs80357529
googlers80357529
pharmgkbrs80357529
gwascentralrs80357529
openSNPrs80357529
23andMers80357529
23andMe allrs80357529
SNP Nexus

SNPshotrs80357529
SNPdbers80357529
MSV3drs80357529
GWAS Ctlgrs80357529
Max Magnitude6
rs80357529, also known as 4229delTG, c.4110_4111delTG and p.Ser1370_Gly1371SerValfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357529(;)
Alt rs80357529(;)
Reference rs80357529(TG;TG)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243035_41243036delCA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112259.1,