DHH desert hedgehog signaling molecule

Information
Symbol
DHH
Type
protein-coding
Description
desert hedgehog signaling molecule
Entrez Gene ID
50846
Genome
hg19
Position
chr12:49,480,439-49,488,584
Genome
hg38
Position
chr12:49,086,656-49,094,801
MIM
605423 OMIM
HGNC
HGNC:2865 HGNC
Ensembl
ENSG00000139549 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 20
Likely pathogenic 0 8
Benign 0 26
Likely benign 0 40
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 106
Ranking
ClinVar
0
0
16
166
16
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 GDMN
SYNONYM GDXYM
SYNONYM HHG-3
SYNONYM SRXY7
MIM 605423 OMIM
HGNC HGNC:2865 HGNC
Ensembl ENSG00000139549 Ensembl
AllianceGenome HGNC:2865
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000649637.2 hg38 chr12 49,086,656 49,094,801 8,146
ENST00000649637.2 hg19 chr12 49,480,439 49,488,584 8,146
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