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rs80357562

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;TT) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357562(-;-)
Make rs80357562(TT;TT)
ReferenceGRCh38 38.1/142
Chromosome17
Position43091937
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357562
ebirs80357562
HLIrs80357562
Exacrs80357562
Varsomers80357562
Maprs80357562
PheGenIrs80357562
hapmaprs80357562
1000 genomesrs80357562
hgdprs80357562
ensemblrs80357562
gopubmedrs80357562
geneviewrs80357562
scholarrs80357562
googlers80357562
pharmgkbrs80357562
gwascentralrs80357562
openSNPrs80357562
23andMers80357562
23andMe allrs80357562
SNP Nexus

SNPshotrs80357562
SNPdbers80357562
MSV3drs80357562
GWAS Ctlgrs80357562
Max Magnitude6
rs80357562, also known as 3712insTT, c.3593_3594insTT and p.Leu1198?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357562(TT;TT)
Alt rs80357562(TT;TT)
Reference rs80357562(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243954_41243955insAA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112128.1,