GCDH glutaryl-CoA dehydrogenase

Information
Symbol
GCDH
Type
protein-coding
Description
glutaryl-CoA dehydrogenase
Entrez Gene ID
2639
Genome
hg19
Position
chr19:13,001,974-13,010,760
Genome
hg38
Position
chr19:12,891,160-12,899,946
MIM
608801 OMIM
HGNC
HGNC:4189 HGNC
Ensembl
ENSG00000105607 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 370
Likely pathogenic 0 328
Benign 0 54
Likely benign 0 726
Conflicting classifications of pathogenicity 0 124
not provided 2 2
Uncertain significance 0 290
Ranking
ClinVar
0
0
362
1,216
40
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 ACAD5
SYNONYM GCD
MIM 608801 OMIM
HGNC HGNC:4189 HGNC
Ensembl ENSG00000105607 Ensembl
AllianceGenome HGNC:4189
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000714067.1 hg38 chr19 12,891,128 12,898,376 7,249
ENST00000714068.1 hg38 chr19 12,891,128 12,914,321 23,194
ENST00000714069.1 hg38 chr19 12,891,128 12,914,346 23,219
ENST00000222214.10 hg38 chr19 12,891,160 12,899,999 8,840
ENST00000588905.6 hg38 chr19 12,891,160 12,899,969 8,810
ENST00000590472.6 hg38 chr19 12,891,160 12,898,383 7,224
ENST00000714070.1 hg38 chr19 12,891,128 12,914,350 23,223
ENST00000591050.2 hg38 chr19 12,891,128 12,915,126 23,999
ENST00000591470.5 hg38 chr19 12,891,160 12,899,946 8,787
ENST00000714067.1 hg19 chr19 13,001,942 13,009,190 7,249
ENST00000588905.6 hg19 chr19 13,001,974 13,010,783 8,810
ENST00000222214.10 hg19 chr19 13,001,974 13,010,813 8,840
ENST00000590472.6 hg19 chr19 13,001,974 13,009,197 7,224
ENST00000591470.5 hg19 chr19 13,001,974 13,010,760 8,787
ENST00000591050.2 hg19 chr19 13,001,942 13,025,940 23,999
ENST00000714069.1 hg19 chr19 13,001,942 13,025,160 23,219
ENST00000714070.1 hg19 chr19 13,001,942 13,025,164 23,223
ENST00000714068.1 hg19 chr19 13,001,942 13,025,135 23,194
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