GHDC GH3 domain containing

Information
Symbol
GHDC
Type
protein-coding
Description
GH3 domain containing
Entrez Gene ID
84514
Genome
hg19
Position
chr17:40,341,106-40,346,213
Genome
hg38
Position
chr17:42,189,088-42,194,195
MIM
608587 OMIM
HGNC
HGNC:24438 HGNC
Ensembl
ENSG00000167925 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 8
Uncertain significance 0 66
Ranking
ClinVar
0
0
0
74
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 D11LGP1
SYNONYM LGP1
MIM 608587 OMIM
HGNC HGNC:24438 HGNC
Ensembl ENSG00000167925 Ensembl
AllianceGenome HGNC:24438
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000593209.5 hg38 chr17 42,188,799 42,194,459 5,661
ENST00000414034.7 hg38 chr17 42,189,088 42,194,494 5,407
ENST00000587427.6 hg38 chr17 42,189,087 42,194,494 5,408
ENST00000301671.12 hg38 chr17 42,189,088 42,194,195 5,108
ENST00000593209.5 hg19 chr17 40,340,817 40,346,477 5,661
ENST00000587427.6 hg19 chr17 40,341,105 40,346,512 5,408
ENST00000301671.12 hg19 chr17 40,341,106 40,346,213 5,108
ENST00000414034.7 hg19 chr17 40,341,106 40,346,512 5,407
Genome browser