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rs80357526

From SNPedia

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


Make rs80357526(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093575
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357526
ebirs80357526
HLIrs80357526
Exacrs80357526
Varsomers80357526
Maprs80357526
PheGenIrs80357526
hapmaprs80357526
1000 genomesrs80357526
hgdprs80357526
ensemblrs80357526
gopubmedrs80357526
geneviewrs80357526
scholarrs80357526
googlers80357526
pharmgkbrs80357526
gwascentralrs80357526
openSNPrs80357526
23andMers80357526
23andMe allrs80357526
SNP Nexus

SNPshotrs80357526
SNPdbers80357526
MSV3drs80357526
GWAS Ctlgrs80357526
Max Magnitude6
rs80357526, also known as 2072del4, c.1953_1956delGAAA and p.Lys651_Lys652?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357526(;)
Alt rs80357526(;)
Reference rs80357526(GAAA;GAAA)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41245592_41245595delTTTC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031016.7, RCV000047653.5, RCV000131893.2, RCV000203663.1,