{{Rsnum
|rsid=6659553
|Gene=POMGNT1
|Chromosome=1
|position=46189486
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.04821
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=POMGNT1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 100.0 | 0.0 | 0.0
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 51.4 | 40.4 | 8.2
| ASW | 60.7 | 35.7 | 3.6
| CHB | 100.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 72.7 | 27.3 | 0.0
| MEX | 98.3 | 1.7 | 0.0
| MKK | 84.0 | 16.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=6659553
|allele=C
|frequency=1
|uid=1103675084343
|type=homozygous_SNP
|hugo=POMGNT1
|ensembl gene=ENSG00000085998
|ensembl transcript=ENST00000371984
|sift=TOLERATED
|disease=Defects in POMGNT1 are a cause of Walker-Warbug syndrome (WWS) (MIM:236670); also known as HARD +/- E syndrome. This autosomal recessive disorder is characterized by hydrocephalus (H), agyria (A), retinal displasia (RD), with or without encephalocele (+/-E). WWS is often associated with FCMD (MIM:253800) and is usually lethal within the first few months of life.
}}

{{GET Evidence
|gene=POMGNT1
|aa_change=Met623Val
|aa_change_short=M623V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6659553
|overall_frequency_n=10114
|overall_frequency_d=10758
|overall_frequency=0.940138
|n_genomes=56
|n_genomes_annotated=0
|n_haplomes=102
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=0
|autoscore=2
|n_web_uneval=1
}}

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