{{Rsnum
|rsid=2229519
|Gene=GBE1
|Chromosome=3
|position=81648979
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.3274
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=GBE1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 45.1 | 43.4 | 11.5
| HCB | 38.0 | 45.3 | 16.8
| JPT | 42.9 | 40.2 | 17.0
| YRI | 55.8 | 36.7 | 7.5
| ASW | 52.6 | 40.4 | 7.0
| CHB | 38.0 | 45.3 | 16.8
| CHD | 30.6 | 42.6 | 26.9
| GIH | 46.5 | 34.7 | 18.8
| LWK | 64.2 | 30.3 | 5.5
| MEX | 50.0 | 39.7 | 10.3
| MKK | 50.6 | 38.5 | 10.9
| TSI | 56.9 | 37.3 | 5.9
| HapMapRevision=28
}}{{Venter SNP
|rsid=2229519
|allele=C
|frequency=0.342
|uid=1103656149863
|type=homozygous_SNP
|hugo=GBE1
|ensembl gene=ENSG00000114480
|ensembl transcript=ENST00000264326
|sift=AFFECT FUNCTION
|disease=Defects in GBE1 are the cause of adult polyglucosan body disease (APBD) (MIM:263570). APBD is a late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBD is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes.
}}

{{PMID Auto
|PMID=17708757
|Title=Genome bioinformatic analysis of nonsynonymous SNPs.
|OA=1
}}

{{GET Evidence
|gene=GBE1
|aa_change=Arg190Gly
|aa_change_short=R190G
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2229519
|overall_frequency_n=2750
|overall_frequency_d=9410
|overall_frequency=0.292242
|n_genomes=29
|n_genomes_annotated=0
|n_haplomes=30
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|pph2_score=0.025
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=6
|autoscore=3
|n_web_uneval=5
}}

{{ClinVar
|ALT=A,C
|CAF=0.6726; 0.3274
|CHROM=3
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.81698130T>A
|CLNORIGIN=2
|CLNSIG=1
|COMMON=1
|FwdALT=G,T
|FwdREF=A
|GENEINFO=GBE1:2632
|GENE_ID=2632
|GENE_NAME=GBE1
|REF=T
|RSPOS=81698130
|Reversed=1
|SAO=3
|SSR=0
|Tags=RV;PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
|VC=SNV
|VP=0x05036800000015051f100121
|WGT=0
|dbSNPBuildID=98
|rsid=2229519
|CLNACC=RCV000066196.2
|CLNDBN=Malignant melanoma
|CLNDSDB=MedGen:SNOMED_CT
|CLNDSDBID=C0025202:2092003
|Disease=Malignant melanoma
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}