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rs80357626

From SNPedia

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


Make rs80357626(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093512
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357626
ebirs80357626
HLIrs80357626
Exacrs80357626
Varsomers80357626
Maprs80357626
PheGenIrs80357626
hapmaprs80357626
1000 genomesrs80357626
hgdprs80357626
ensemblrs80357626
gopubmedrs80357626
geneviewrs80357626
scholarrs80357626
googlers80357626
pharmgkbrs80357626
gwascentralrs80357626
openSNPrs80357626
23andMers80357626
23andMe allrs80357626
SNP Nexus

SNPshotrs80357626
SNPdbers80357626
MSV3drs80357626
GWAS Ctlgrs80357626
Max Magnitude6
rs80357626, also known as 2138delA, c.2019_2019delA and p.Glu673Aspfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357626(;)
Alt rs80357626(;)
Reference rs80357626(A;A)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41245529delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047685.3, RCV000077504.4, RCV000167502.1,