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rs80357674

From SNPedia

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


Make rs80357674(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093122
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357674
ebirs80357674
HLIrs80357674
Exacrs80357674
Varsomers80357674
Maprs80357674
PheGenIrs80357674
hapmaprs80357674
1000 genomesrs80357674
hgdprs80357674
ensemblrs80357674
gopubmedrs80357674
geneviewrs80357674
scholarrs80357674
googlers80357674
pharmgkbrs80357674
gwascentralrs80357674
openSNPrs80357674
23andMers80357674
23andMe allrs80357674
SNP Nexus

SNPshotrs80357674
SNPdbers80357674
MSV3drs80357674
GWAS Ctlgrs80357674
Max Magnitude6
rs80357674, also known as 2525del4, c.2406_2409delGAGT and p.Val802_Ser803?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357674(;)
Alt rs80357674(;)
Reference rs80357674(GAGT;GAGT)
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.41245139_41245142delACTC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047827.2, RCV000111845.1,