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rs80357710

From SNPedia

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


Make rs80357710(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063934
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357710
ebirs80357710
HLIrs80357710
Exacrs80357710
Varsomers80357710
Maprs80357710
PheGenIrs80357710
hapmaprs80357710
1000 genomesrs80357710
hgdprs80357710
ensemblrs80357710
gopubmedrs80357710
geneviewrs80357710
scholarrs80357710
googlers80357710
pharmgkbrs80357710
gwascentralrs80357710
openSNPrs80357710
23andMers80357710
23andMe allrs80357710
SNP Nexus

SNPshotrs80357710
SNPdbers80357710
MSV3drs80357710
GWAS Ctlgrs80357710
Max Magnitude6
rs80357710, also known as 5210delTG, c.5091_5092delTG and p.Cys1697_Glu1698TerThrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357710(;)
Alt rs80357710(;)
Reference rs80357710(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.41215951_41215952delCA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048787.2, RCV000112495.1,