Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357764

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;GA) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357764(-;-)
Make rs80357764(GA;GA)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092274
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357764
ebirs80357764
HLIrs80357764
Exacrs80357764
Varsomers80357764
Maprs80357764
PheGenIrs80357764
hapmaprs80357764
1000 genomesrs80357764
hgdprs80357764
ensemblrs80357764
gopubmedrs80357764
geneviewrs80357764
scholarrs80357764
googlers80357764
pharmgkbrs80357764
gwascentralrs80357764
openSNPrs80357764
23andMers80357764
23andMe allrs80357764
SNP Nexus

SNPshotrs80357764
SNPdbers80357764
MSV3drs80357764
GWAS Ctlgrs80357764
Max Magnitude6
rs80357764, also known as 3375insGA, c.3256_3257insGA and p.Leu1086?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357764(GA;GA)
Alt rs80357764(GA;GA)
Reference rs80357764(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244291_41244292insTC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112036.2,