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rs80357524

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;C) 6 BRCA1 variant considered pathogenic for breast cancer
(C;C) 0 Normal


Make rs80357524(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093098
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357524
ebirs80357524
HLIrs80357524
Exacrs80357524
Varsomers80357524
Maprs80357524
PheGenIrs80357524
hapmaprs80357524
1000 genomesrs80357524
hgdprs80357524
ensemblrs80357524
gopubmedrs80357524
geneviewrs80357524
scholarrs80357524
googlers80357524
pharmgkbrs80357524
gwascentralrs80357524
openSNPrs80357524
23andMers80357524
23andMe allrs80357524
SNP Nexus

SNPshotrs80357524
SNPdbers80357524
MSV3drs80357524
GWAS Ctlgrs80357524
Max Magnitude6
rs80357524, also known as 2552delC, c.2433_2433delC and p.Pro811=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357524(;)
Alt rs80357524(;)
Reference rs80357524(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41245115delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031050.5, RCV000047838.4, RCV000129993.2, RCV000236325.1,