DES desmin

Information
Symbol
DES
Type
protein-coding
Description
desmin
Entrez Gene ID
1674
Genome
hg19
Position
chr2:220,283,099-220,291,456
Genome
hg38
Position
chr2:219,418,377-219,426,734
MIM
125660 OMIM
HGNC
HGNC:2770 HGNC
Ensembl
ENSG00000175084 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 6 138
Likely pathogenic 6 102
Benign 6 88
Likely benign 0 574
Conflicting classifications of pathogenicity 0 148
not provided 0 22
Uncertain significance 0 1,076
Ranking
ClinVar
0
0
586
1,276
30
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 CDCD3
SYNONYM CSM1
SYNONYM CSM2
SYNONYM LGMD1D
SYNONYM LGMD1E
SYNONYM LGMD2R
MIM 125660 OMIM
HGNC HGNC:2770 HGNC
Ensembl ENSG00000175084 Ensembl
AllianceGenome HGNC:2770
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000373960.4 hg38 chr2 219,418,377 219,426,734 8,358
ENST00000373960.4 hg19 chr2 220,283,099 220,291,456 8,358
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