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rs80358757

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358757(A;A)
Make rs80358757(A;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339699
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358757
dbSNP (old)rs80358757
ClinGenrs80358757
ebirs80358757
HLIrs80358757
Exacrs80358757
Varsomers80358757
Maprs80358757
PheGenIrs80358757
Biobankrs80358757
1000 genomesrs80358757
hgdprs80358757
ensemblrs80358757
gopubmedrs80358757
geneviewrs80358757
scholarrs80358757
googlers80358757
pharmgkbrs80358757
gwascentralrs80358757
openSNPrs80358757
23andMers80358757
23andMe allrs80358757
SNP Nexus

SNPshotrs80358757
SNPdbers80358757
MSV3drs80358757
GWAS Ctlgrs80358757
Max Magnitude6
rs80358757, also known as Q1782X, c.5344C>T and p.Gln1782Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358757(A;A) rs80358757(G;G) rs80358757(T;T)
Alt rs80358757(A;A) rs80358757(G;G) rs80358757(T;T)
Reference Rs80358757(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not specified Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not specified Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32913836C>A; NC_000013.10:g.32913836C>G; NC_000013.10:g.32913836C>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000044636.3, RCV000113421.1, RCV000132498.2, RCV000421612.1, RCV000132502.2, RCV000044637.2, RCV000113422.3,