DMPK DM1 protein kinase

Information
Symbol
DMPK
Type
protein-coding
Description
DM1 protein kinase
Entrez Gene ID
1760
Genome
hg19
Position
chr19:46,272,975-46,285,748
Genome
hg38
Position
chr19:45,769,717-45,782,490
MIM
605377 OMIM
HGNC
HGNC:2933 HGNC
Ensembl
ENSG00000104936 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 10 10
Likely benign 0 48
Uncertain significance 0 104
Ranking
ClinVar
0
0
4
150
8
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM DM
SYNONYM DM1
SYNONYM DM1PK
SYNONYM DMK
SYNONYM MDPK
SYNONYM MT-PK
MIM 605377 OMIM
HGNC HGNC:2933 HGNC
Ensembl ENSG00000104936 Ensembl
AllianceGenome HGNC:2933
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000447742.6 hg38 chr19 45,769,736 45,782,479 12,744
ENST00000291270.9 hg38 chr19 45,769,717 45,782,490 12,774
ENST00000343373.10 hg38 chr19 45,769,764 45,782,496 12,733
ENST00000458663.6 hg38 chr19 45,769,847 45,782,388 12,542
ENST00000683086.1 hg38 chr19 45,770,092 45,782,490 12,399
ENST00000354227.9 hg38 chr19 45,770,381 45,782,489 12,109
ENST00000291270.9 hg19 chr19 46,272,975 46,285,748 12,774
ENST00000343373.10 hg19 chr19 46,273,022 46,285,754 12,733
ENST00000354227.9 hg19 chr19 46,273,639 46,285,747 12,109
ENST00000447742.6 hg19 chr19 46,272,994 46,285,737 12,744
ENST00000458663.6 hg19 chr19 46,273,105 46,285,646 12,542
ENST00000683086.1 hg19 chr19 46,273,350 46,285,748 12,399
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