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rs80357852

From SNPedia

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


Make rs80357852(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43057099
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357852
ebirs80357852
HLIrs80357852
Exacrs80357852
Varsomers80357852
Maprs80357852
PheGenIrs80357852
hapmaprs80357852
1000 genomesrs80357852
hgdprs80357852
ensemblrs80357852
gopubmedrs80357852
geneviewrs80357852
scholarrs80357852
googlers80357852
pharmgkbrs80357852
gwascentralrs80357852
openSNPrs80357852
23andMers80357852
23andMe allrs80357852
SNP Nexus

SNPshotrs80357852
SNPdbers80357852
MSV3drs80357852
GWAS Ctlgrs80357852
Max Magnitude6
rs80357852, also known as 5348delAA, c.5229_5230delAA and p.Gly1743_Arg1744GlyLysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357852(;)
Alt rs80357852(;)
Reference rs80357852(AA;AA)
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.41209116_41209117delTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048871.2, RCV000112572.1,