{{Rsnum
|rsid=12918964
|Gene=PHKB
|Chromosome=16
|position=47698565
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.001377
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=PHKB
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 97.3 | 2.7 | 0.0
| HCB | 98.5 | 1.5 | 0.0
| JPT | 98.2 | 1.8 | 0.0
| YRI | 98.6 | 1.4 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 98.5 | 1.5 | 0.0
| CHD | 99.1 | 0.9 | 0.0
| GIH | 97.0 | 3.0 | 0.0
| LWK | 99.1 | 0.9 | 0.0
| MEX | 98.2 | 1.8 | 0.0
| MKK | 99.4 | 0.6 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=12918964
|allele=T
|frequency=0
|uid=1103645467957
|type=heterozygous_SNP
|hugo=PHKB
|ensembl gene=ENSG00000102893
|ensembl transcript=ENST00000323584
|sift=AFFECT FUNCTION
|disease=Defects in PHKB are the cause of phosphorylase kinase deficiency of liver and muscle (PKD) (MIM:172490). PKD is an autosomal recessive glycogen storage disorder. Defects that have been characterized to date are very mild, with few physical complaints other than hepathomegaly, only slightly elevated transaminases and plasma lipids, clinical improvement with increasing age, and remarkably no clinical muscle involvement. Biochemical observations suggest that this mild phenotype is caused by an incomplete holoenzyme that lacks the beta subunit, but that may possess residual activity.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}