{{Rsnum
|rsid=398123063
|Summary=Rare inherited variant associated with a form of B-cell leukemia
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=PAX5
|Gene_s=PAX5
|Chromosome=9
|position=37002705
|Orientation=minus
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}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|OA=1
}}{{ClinVar
|ALT=T
|CHROM=9
|CLNACC=RCV000074461.1
|CLNALLE=1
|CLNDBN=Leukemia, acute lymphoblastic, susceptibility to, 3
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=CN181776:615545
|CLNHGVS=NC_000009.11:g.37002702C>T
|CLNSIG=255
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=167414.0001
|Disease=Leukemia
|FwdALT=A
|FwdREF=G
|GENEINFO=PAX5:5079
|GENE_ID=5079
|GENE_NAME=PAX5
|REF=C
|RSPOS=37002702
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=138
|rsid=398123063
}}