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rs80357930

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;CT) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357930(-;-)
Make rs80357930(CT;CT)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093315
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357930
ebirs80357930
HLIrs80357930
Exacrs80357930
Varsomers80357930
Maprs80357930
PheGenIrs80357930
hapmaprs80357930
1000 genomesrs80357930
hgdprs80357930
ensemblrs80357930
gopubmedrs80357930
geneviewrs80357930
scholarrs80357930
googlers80357930
pharmgkbrs80357930
gwascentralrs80357930
openSNPrs80357930
23andMers80357930
23andMe allrs80357930
SNP Nexus

SNPshotrs80357930
SNPdbers80357930
MSV3drs80357930
GWAS Ctlgrs80357930
Max Magnitude6
rs80357930, also known as 2334insCT, c.2215_2216insCT and p.Lys739?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357930(CT;CT)
Alt rs80357930(CT;CT)
Reference rs80357930(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245332_41245333insAG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111796.1,