GCDH glutaryl-CoA dehydrogenase
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 | |
---|---|
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0 |
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0 |
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362 |
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1,216 |
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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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | ACAD5 |
SYNONYM | GCD |
MIM | 608801 OMIM |
HGNC | HGNC:4189 HGNC |
Ensembl | ENSG00000105607 Ensembl |
AllianceGenome | HGNC:4189 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
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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