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rs80357665

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;C) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357665(-;-)
Make rs80357665(C;C)
ReferenceGRCh38 38.1/142
Chromosome17
Position43094429
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357665
ebirs80357665
HLIrs80357665
Exacrs80357665
Varsomers80357665
Maprs80357665
PheGenIrs80357665
hapmaprs80357665
1000 genomesrs80357665
hgdprs80357665
ensemblrs80357665
gopubmedrs80357665
geneviewrs80357665
scholarrs80357665
googlers80357665
pharmgkbrs80357665
gwascentralrs80357665
openSNPrs80357665
23andMers80357665
23andMe allrs80357665
SNP Nexus

SNPshotrs80357665
SNPdbers80357665
MSV3drs80357665
GWAS Ctlgrs80357665
Max Magnitude6
rs80357665, also known as 1220insC, c.1101_1102insC and p.Thr367_Glu368?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357665(C;C)
Alt rs80357665(C;C)
Reference rs80357665(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246446_41246447insG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111547.1,