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PAX5

From SNPedia

is agene
is mentioned by
Full namepaired box 5
EntrezGene5079
PheGenI5079
VariationViewer5079
ClinVarPAX5
GeneCardsPAX5
dbSNP5079
DiseasesPAX5
SADR5079
HugeNav5079
wikipediaPAX5
googlePAX5
gopubmedPAX5
EVSPAX5
HEFalMpPAX5
MyGene2PAX5
23andMePAX5
UniProtQ02548
EnsemblENSG00000196092
OMIM167414
# SNPs3
 Max MagnitudeChromosome positionSummary
rs1693381236,969,208
rs398123063337,002,705Rare inherited variant associated with a form of B-cell leukemia
rs647660637,005,564

The protein known as Paired box protein Pax-5 is encoded by the PAX5 gene; it is a member of the paired box (PAX) family of transcription factors.Wikipedia

rs398123063(A), a rare variation known as c.547G>A or Gly183Ser, has been associated with autosomal dominant B cell precursor acute lymphoblastic leukemia (B-ALL). Individuals carrying this variation appear to require the deletion or inactivation of their normal allele at this locus to develop clinical symptoms of B-ALL.[PMID 24013638]