{{Rsnum
|rsid=2296949
|Gene=POMT1
|Chromosome=9
|position=131510049
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.1341
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=POMT1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 14.2 | 85.8
| HCB | 0.0 | 11.7 | 88.3
| JPT | 0.9 | 17.7 | 81.4
| YRI | 4.8 | 42.2 | 53.1
| ASW | 8.8 | 31.6 | 59.6
| CHB | 0.0 | 11.7 | 88.3
| CHD | 0.0 | 21.1 | 78.9
| GIH | 0.0 | 4.0 | 96.0
| LWK | 8.2 | 50.9 | 40.9
| MEX | 0.0 | 25.9 | 74.1
| MKK | 8.3 | 42.9 | 48.7
| TSI | 0.0 | 15.7 | 84.3
| HapMapRevision=28
}}{{Venter SNP
|rsid=2296949
|allele=G
|frequency=0.925
|uid=1103652195264
|type=homozygous_SNP
|hugo=POMT1
|ensembl gene=ENSG00000130714
|ensembl transcript=ENST00000253012
|sift=TOLERATED
|disease=Defects in POMT1 are the cause of limb-girdle muscular dystrophy type 2K (LGMD2K) (MIM:609308); also called autosomal recessive limb-girdle muscular dystrophy with mental retardation. LGMD2K is a novel form of recessive limb girdle muscular dystrophy with mild mental retardation without any obvious structural brain abnormality, associated with an abnormal alpha-dystroglycan pattern in the muscle. LGMD2K is a significantly milder allelic form of WWS.
}}

{{GET Evidence
|gene=POMT1
|aa_change=Gln251Arg
|aa_change_short=Q251R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2296949
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=0
|autoscore=3
|n_web_uneval=1
}}

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