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rs80357824

From SNPedia

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


Make rs80357824(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094846
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357824
ebirs80357824
HLIrs80357824
Exacrs80357824
Varsomers80357824
Maprs80357824
PheGenIrs80357824
hapmaprs80357824
1000 genomesrs80357824
hgdprs80357824
ensemblrs80357824
gopubmedrs80357824
geneviewrs80357824
scholarrs80357824
googlers80357824
pharmgkbrs80357824
gwascentralrs80357824
openSNPrs80357824
23andMers80357824
23andMe allrs80357824
SNP Nexus

SNPshotrs80357824
SNPdbers80357824
MSV3drs80357824
GWAS Ctlgrs80357824
Max Magnitude6
rs80357824, also known as 804delT, c.685_685delT and p.Ser229Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357824(;)
Alt rs80357824(;)
Reference rs80357824(T;T)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246863delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049094.4, RCV000112771.1,