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rs80358435

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358435(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32319154
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358435
ebirs80358435
HLIrs80358435
Exacrs80358435
Varsomers80358435
Maprs80358435
PheGenIrs80358435
hapmaprs80358435
1000 genomesrs80358435
hgdprs80358435
ensemblrs80358435
gopubmedrs80358435
geneviewrs80358435
scholarrs80358435
googlers80358435
pharmgkbrs80358435
gwascentralrs80358435
openSNPrs80358435
23andMers80358435
23andMe allrs80358435
SNP Nexus

SNPshotrs80358435
SNPdbers80358435
MSV3drs80358435
GWAS Ctlgrs80358435
Max Magnitude6
rs80358435, also known as E49X, c.145G>T and p.Glu49Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358435(T;T)
Alt rs80358435(T;T)
Reference rs80358435(G;G)
Significance Other
Disease not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN not provided Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32893291G>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000043811.5, RCV000077257.5, RCV000131868.2, RCV000167820.2, RCV000238910.1,