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rs80357539

From SNPedia

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


Make rs80357539(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093330
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357539
ebirs80357539
HLIrs80357539
Exacrs80357539
Varsomers80357539
Maprs80357539
PheGenIrs80357539
hapmaprs80357539
1000 genomesrs80357539
hgdprs80357539
ensemblrs80357539
gopubmedrs80357539
geneviewrs80357539
scholarrs80357539
googlers80357539
pharmgkbrs80357539
gwascentralrs80357539
openSNPrs80357539
23andMers80357539
23andMe allrs80357539
SNP Nexus

SNPshotrs80357539
SNPdbers80357539
MSV3drs80357539
GWAS Ctlgrs80357539
Max Magnitude6
rs80357539, also known as 2316del5, c.2197_2201delGAGAA and p.Glu733_Lys734?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357539(;)
Alt rs80357539(;)
Reference rs80357539(GAGAA;GAGAA)
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.41245347_41245351delTTCTC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047754.3, RCV000111789.3,