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rs80357899

From SNPedia

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


Make rs80357899(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092830
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357899
ebirs80357899
HLIrs80357899
Exacrs80357899
Varsomers80357899
Maprs80357899
PheGenIrs80357899
hapmaprs80357899
1000 genomesrs80357899
hgdprs80357899
ensemblrs80357899
gopubmedrs80357899
geneviewrs80357899
scholarrs80357899
googlers80357899
pharmgkbrs80357899
gwascentralrs80357899
openSNPrs80357899
23andMers80357899
23andMe allrs80357899
SNP Nexus

SNPshotrs80357899
SNPdbers80357899
MSV3drs80357899
GWAS Ctlgrs80357899
Max Magnitude6
rs80357899, also known as 2819delTT, c.2700_2701delTT and p.Thr900_Phe901ThrTerfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357899(;)
Alt rs80357899(;)
Reference rs80357899(TT;TT)
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.41244845_41244846delAA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047938.2, RCV000111921.1,