COASY Coenzyme A synthase
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 26 |
| Likely pathogenic | 0 | 14 |
| Benign | 0 | 36 |
| Likely benign | 0 | 214 |
| Conflicting classifications of pathogenicity | 0 | 16 |
| Uncertain significance | 0 | 308 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
116 |
 |
470 |
 |
2 |
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
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| 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 | |||||||||||
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | DPCK |
| SYNONYM | NBIA6 |
| SYNONYM | NBP |
| SYNONYM | PCH12 |
| SYNONYM | PPAT |
| SYNONYM | UKR1 |
| SYNONYM | pOV-2 |
| MIM | 609855 OMIM |
| HGNC | HGNC:29932 HGNC |
| Ensembl | ENSG00000068120 Ensembl |
| AllianceGenome | HGNC:29932 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000421097.6 | hg38 | chr17 | 42,562,147 | 42,566,260 | 4,114 |
| ENST00000393818.3 | hg38 | chr17 | 42,562,148 | 42,566,277 | 4,130 |
| ENST00000590958.5 | hg38 | chr17 | 42,562,151 | 42,566,037 | 3,887 |
| ENST00000421097.6 | hg19 | chr17 | 40,714,165 | 40,718,278 | 4,114 |
| ENST00000393818.3 | hg19 | chr17 | 40,714,166 | 40,718,295 | 4,130 |
| ENST00000590958.5 | hg19 | chr17 | 40,714,169 | 40,718,055 | 3,887 |
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