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rs80359355

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;TT) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359355(-;-)
Make rs80359355(TT;TT)
ReferenceGRCh38 38.1/142
Chromosome13
Position32337188
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359355
ebirs80359355
HLIrs80359355
Exacrs80359355
Varsomers80359355
Maprs80359355
PheGenIrs80359355
hapmaprs80359355
1000 genomesrs80359355
hgdprs80359355
ensemblrs80359355
gopubmedrs80359355
geneviewrs80359355
scholarrs80359355
googlers80359355
pharmgkbrs80359355
gwascentralrs80359355
openSNPrs80359355
23andMers80359355
23andMe allrs80359355
SNP Nexus

SNPshotrs80359355
SNPdbers80359355
MSV3drs80359355
GWAS Ctlgrs80359355
Max Magnitude6
rs80359355, also known as 3061insTT, c.2833_2834insTT and p.Lys945?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359355(TT;TT)
Alt rs80359355(TT;TT)
Reference rs80359355(;)
Significance Pathogenic
Disease Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32911325_32911326insTT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113098.1, RCV000216259.1,