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rs80357547

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;TGAGA) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357547(-;-)
Make rs80357547(TGAGA;TGAGA)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092477
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357547
ebirs80357547
HLIrs80357547
Exacrs80357547
Varsomers80357547
Maprs80357547
PheGenIrs80357547
hapmaprs80357547
1000 genomesrs80357547
hgdprs80357547
ensemblrs80357547
gopubmedrs80357547
geneviewrs80357547
scholarrs80357547
googlers80357547
pharmgkbrs80357547
gwascentralrs80357547
openSNPrs80357547
23andMers80357547
23andMe allrs80357547
SNP Nexus

SNPshotrs80357547
SNPdbers80357547
MSV3drs80357547
GWAS Ctlgrs80357547
Max Magnitude6
rs80357547, also known as 3172ins5, c.3053_3054insTGAGA and p.Asn1018?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357547(TGAGA;TGAGA)
Alt rs80357547(TGAGA;TGAGA)
Reference rs80357547(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244494_41244495insTCTCA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111994.1,