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

rs80357840

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;TGGT) 6 BRCA1 variant considered pathogenic for breast cancer
(TGGT;TGGT) 0 common in clinvar


Make rs80357840(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092732
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357840
ebirs80357840
HLIrs80357840
Exacrs80357840
Varsomers80357840
Maprs80357840
PheGenIrs80357840
hapmaprs80357840
1000 genomesrs80357840
hgdprs80357840
ensemblrs80357840
gopubmedrs80357840
geneviewrs80357840
scholarrs80357840
googlers80357840
pharmgkbrs80357840
gwascentralrs80357840
openSNPrs80357840
23andMers80357840
23andMe allrs80357840
SNP Nexus

SNPshotrs80357840
SNPdbers80357840
MSV3drs80357840
GWAS Ctlgrs80357840
Max Magnitude6
rs80357840, also known as 2915del4, c.2796_2799delTGGT and p.Val932_Gly933?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357840(;)
Alt rs80357840(;)
Reference rs80357840(TGGT;TGGT)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244749_41244752delACCA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047970.2, RCV000111940.1,