{{Rsnum
|rsid=4302331
|Gene=GLB1
|Chromosome=3
|position=33014229
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.05923
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 1.8 | 98.2
| HCB | 0.0 | 0.7 | 99.3
| JPT | 0.0 | 0.0 | 100.0
| YRI | 10.9 | 40.1 | 49.0
| ASW | 1.8 | 28.1 | 70.2
| CHB | 0.0 | 0.7 | 99.3
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 3.6 | 30.9 | 65.5
| MEX | 0.0 | 5.3 | 94.7
| MKK | 2.6 | 18.6 | 78.8
| TSI | 0.0 | 1.0 | 99.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=4302331
|allele=G
|frequency=1
|uid=1103656064303
|type=homozygous_SNP
|hugo=GLB1
|ensembl gene=ENSG00000170266
|ensembl transcript=ENST00000307363
|sift=TOLERATED
|disease=Defects in GLB1 are the cause of mucopolysaccharidosis IV B (MPS4B) (MIM:253010); also known as Morquio syndrome B. MPS4B is a rare autosomal recessive disorder characterized by severe bone deformities without CNS involvement.
}}

{{GET Evidence
|gene=GLB1
|aa_change=Cys521Arg
|aa_change_short=C521R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4302331
|overall_frequency_n=9390
|overall_frequency_d=10056
|overall_frequency=0.933771
|n_genomes=54
|n_genomes_annotated=0
|n_haplomes=100
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=8
|autoscore=1
|webscore=N
}}

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