DSG1 desmoglein 1

Information
Symbol
DSG1
Type
protein-coding
Description
desmoglein 1
Entrez Gene ID
1828
Genome
hg19
Position
chr18:28,898,123-28,939,209
Genome
hg38
Position
chr18:31,318,160-31,359,246
MIM
125670 OMIM
HGNC
HGNC:3048 HGNC
Ensembl
ENSG00000134760 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 50
Likely pathogenic 0 20
Benign 38 162
Likely benign 0 442
Conflicting classifications of pathogenicity 0 18
Uncertain significance 0 750
Ranking
ClinVar
0
0
190
1,188
18
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 CDHF4
SYNONYM DG1
SYNONYM DSG
SYNONYM EPKHE
SYNONYM EPKHIA
SYNONYM PPKS1
SYNONYM SPPK1
MIM 125670 OMIM
HGNC HGNC:3048 HGNC
Ensembl ENSG00000134760 Ensembl
AllianceGenome HGNC:3048
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000257192.5 hg38 chr18 31,318,160 31,359,246 41,087
ENST00000257192.5 hg19 chr18 28,898,123 28,939,209 41,087
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