{{Rsnum
|rsid=527221
|Gene=DMPK
|Chromosome=19
|position=45772718
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.1217
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=DMPK
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 1.5 | 16.9 | 81.5
| HCB | 2.2 | 26.7 | 71.1
| JPT | 0.0 | 39.5 | 60.5
| YRI | 0.0 | 12.9 | 87.1
| ASW | 0.0 | 0.0 | 0.0
| CHB | 2.2 | 26.7 | 71.1
| 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=527221
|allele=C
|frequency=0.092
|uid=1103691154917
|type=heterozygous_SNP
|hugo=DMPK
|ensembl gene=ENSG00000104936
|ensembl transcript=ENST00000342805
|sift=TOLERATED
|disease=Defects in DMPK are the cause of myotonic dystrophy 1 (DM1) (MIM:160900); also known as Steinert disease. DM is an autosomal dominant neurodegenerative disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness, and cardiac arrhythmias. DM patients show decreased levels of kinase expression inversely related to repeat length. The minimum estimated incidence is 1 in 8'000 live births. DM1 is caused by a CTG expansion in the 3' untranslated region of the DMPK gene. The repeat length usually increases in successive generations, but not always.
}}{{GET Evidence
|gene=DMPK
|aa_change=Leu423Val
|aa_change_short=L423V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs527221
|overall_frequency_n=1023
|overall_frequency_d=10756
|overall_frequency=0.0951097
|n_genomes=13
|n_genomes_annotated=0
|n_haplomes=13
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=3
|n_web_uneval=2
}}