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rs80358648

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358648(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338322
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358648
ebirs80358648
HLIrs80358648
Exacrs80358648
Varsomers80358648
Maprs80358648
PheGenIrs80358648
hapmaprs80358648
1000 genomesrs80358648
hgdprs80358648
ensemblrs80358648
gopubmedrs80358648
geneviewrs80358648
scholarrs80358648
googlers80358648
pharmgkbrs80358648
gwascentralrs80358648
openSNPrs80358648
23andMers80358648
23andMe allrs80358648
SNP Nexus

SNPshotrs80358648
SNPdbers80358648
MSV3drs80358648
GWAS Ctlgrs80358648
Max Magnitude6
rs80358648, also known as K1323X, c.3967A>T and p.Lys1323Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358648(T;T)
Alt rs80358648(T;T)
Reference rs80358648(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32912459A>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000044325.2, RCV000113255.1, RCV000131094.2,