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rs80357596

From SNPedia

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


Make rs80357596(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092849
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357596
ebirs80357596
HLIrs80357596
Exacrs80357596
Varsomers80357596
Maprs80357596
PheGenIrs80357596
hapmaprs80357596
1000 genomesrs80357596
hgdprs80357596
ensemblrs80357596
gopubmedrs80357596
geneviewrs80357596
scholarrs80357596
googlers80357596
pharmgkbrs80357596
gwascentralrs80357596
openSNPrs80357596
23andMers80357596
23andMe allrs80357596
SNP Nexus

SNPshotrs80357596
SNPdbers80357596
MSV3drs80357596
GWAS Ctlgrs80357596
Max Magnitude6
rs80357596, also known as 2798del4, c.2679_2682delGAAA and p.Lys893_Lys894?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357596(;)
Alt rs80357596(;)
Reference rs80357596(GAAA;GAAA)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41244866_41244869delTTTC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031062.7, RCV000047925.3, RCV000131877.2,