{{Rsnum
|rsid=56257827
|Gene=PHKB
|Chromosome=16
|position=47515562
|Orientation=plus
|GMAF=0.005969
|Gene_s=PHKB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
}}{{ClinVar
|ALT=T
|CAF=0.994; 0.005969
|CHROM=16
|CLNALLE=1
|CLNDBN=Glycogen storage disease IXb
|CLNDSDB=OMIM
|CLNDSDBID=261750
|CLNHGVS=NC_000016.9:g.47549473G>T
|CLNSIG=5
|COMMON=1
|Disease=Glycogen storage disease IXb
|FwdALT=T
|FwdREF=G
|GENEINFO=PHKB:5257
|GENE_ID=5257
|GENE_NAME=PHKB
|REF=G
|RSPOS=47549473
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;SLO;NSM;REF;VLD;HD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050160000a01040416110100
|WGT=1
|dbSNPBuildID=129
|rsid=56257827
}}{{GET Evidence
|gene=PHKB
|aa_change=Met185Ile
|aa_change_short=M185I
|impact=pathogenic
|qualified_impact=Moderate clinical importance, Uncertain pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs56257827
|overall_frequency_n=113
|overall_frequency_d=10750
|overall_frequency=0.0105116
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=3
|qualitycomment_severity=Y
|qualityscore_treatability=3
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|pph2_score=0.997
|genetests_testable=Y
|nblosum100=-1
|max_or_disease_name=Glycogen Storage Disease TypeIX
|max_or_case_pos=1
|max_or_case_neg=31
|max_or_control_pos=0
|max_or_control_neg=0
|autoscore=4
|n_web_uneval=1
|variant_evidence=1
|clinical_importance=0
|summary_short=Reported to cause glycogen storage disease type IX in a recessive manner, but insufficient data is reported to establish significance.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}