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rs80357543

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;GT) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357543(-;-)
Make rs80357543(GT;GT)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094204
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357543
ebirs80357543
HLIrs80357543
Exacrs80357543
Varsomers80357543
Maprs80357543
PheGenIrs80357543
hapmaprs80357543
1000 genomesrs80357543
hgdprs80357543
ensemblrs80357543
gopubmedrs80357543
geneviewrs80357543
scholarrs80357543
googlers80357543
pharmgkbrs80357543
gwascentralrs80357543
openSNPrs80357543
23andMers80357543
23andMe allrs80357543
SNP Nexus

SNPshotrs80357543
SNPdbers80357543
MSV3drs80357543
GWAS Ctlgrs80357543
Max Magnitude6
rs80357543, also known as 1445insGT, c.1326_1327insGT and p.Cys442_Lys443?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357543(GT;GT)
Alt rs80357543(GT;GT)
Reference rs80357543(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246221_41246222insAC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000077061.3,