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

rs80357728

From SNPedia

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


Make rs80357728(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43115776
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357728
ebirs80357728
HLIrs80357728
Exacrs80357728
Varsomers80357728
Maprs80357728
PheGenIrs80357728
hapmaprs80357728
1000 genomesrs80357728
hgdprs80357728
ensemblrs80357728
gopubmedrs80357728
geneviewrs80357728
scholarrs80357728
googlers80357728
pharmgkbrs80357728
gwascentralrs80357728
openSNPrs80357728
23andMers80357728
23andMe allrs80357728
SNP Nexus

SNPshotrs80357728
SNPdbers80357728
MSV3drs80357728
GWAS Ctlgrs80357728
Max Magnitude6
rs80357728, also known as 202delTG, c.83_84delTG and p.Leu28Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357728(;)
Alt rs80357728(;)
Reference rs80357728(TG;TG)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41267793_41267794delCA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049167.2, RCV000111730.1, RCV000216341.1,