{{Rsnum
|rsid=86312
|Gene=NAGLU
|Chromosome=17
|position=42544215
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.1162
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=NAGLU
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 0.0 | 7.7 | 92.3
| HCB | 0.0 | 2.2 | 97.8
| JPT | 0.0 | 0.0 | 100.0
| YRI | 19.0 | 41.3 | 39.7
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 2.2 | 97.8
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=86312
|allele=G
|frequency=0.958
|uid=1103645326552
|type=homozygous_SNP
|hugo=NAGLU
|ensembl gene=ENSG00000108784
|ensembl transcript=ENST00000225927
|sift=AFFECT FUNCTION
|disease=Defects in NAGLU are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB) (MIM:252920); also known as Sanfilippo syndome B. MPS-IIIB is an autosomal recessive disorder whose clinical features are severe mental deterioration but mild somatic manifestations in childhood, and death in the second decade. Biochemically, this disease is characterized by undegraded or partially degraded heparan sulfate which accumulates in lysosomes and is excreted in urine.
}}

{{GET Evidence
|gene=NAGLU
|aa_change=Arg737Gly
|aa_change_short=R737G
|impact=benign
|qualified_impact=Insufficiently evaluated benign
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs86312
|overall_frequency_n=9089
|overall_frequency_d=10758
|overall_frequency=0.84486
|n_genomes=49
|n_genomes_annotated=0
|n_haplomes=90
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=6
|autoscore=1
|webscore=N
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}