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

rs80357608

From SNPedia

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


Make rs80357608(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063923
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357608
ebirs80357608
HLIrs80357608
Exacrs80357608
Varsomers80357608
Maprs80357608
PheGenIrs80357608
hapmaprs80357608
1000 genomesrs80357608
hgdprs80357608
ensemblrs80357608
gopubmedrs80357608
geneviewrs80357608
scholarrs80357608
googlers80357608
pharmgkbrs80357608
gwascentralrs80357608
openSNPrs80357608
23andMers80357608
23andMe allrs80357608
SNP Nexus

SNPshotrs80357608
SNPdbers80357608
MSV3drs80357608
GWAS Ctlgrs80357608
Max Magnitude6
rs80357608, also known as 5221delTG, c.5102_5103delTG and p.Leu1701Glnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357608(;)
Alt rs80357608(;)
Reference rs80357608(TG;TG)
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.41215940_41215941delCA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048795.2, RCV000077596.3,