ECI2 enoyl-CoA delta isomerase 2
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| Likely benign | 0 | 6 |
| Uncertain significance | 0 | 46 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
58 |
 |
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 | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | ACBD2 |
| SYNONYM | DRS-1 |
| SYNONYM | DRS1 |
| SYNONYM | HCA88 |
| SYNONYM | PECI |
| SYNONYM | dJ1013A10.3 |
| MIM | 608024 OMIM |
| HGNC | HGNC:14601 HGNC |
| Ensembl | ENSG00000198721 Ensembl |
| AllianceGenome | HGNC:14601 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000380125.6 | hg38 | chr6 | 4,115,693 | 4,135,468 | 19,776 |
| ENST00000465828.5 | hg38 | chr6 | 4,115,707 | 4,135,557 | 19,851 |
| ENST00000380118.8 | hg38 | chr6 | 4,115,706 | 4,135,575 | 19,870 |
| ENST00000361538.6 | hg38 | chr6 | 4,115,706 | 4,135,597 | 19,892 |
| ENST00000380125.6 | hg19 | chr6 | 4,115,927 | 4,135,702 | 19,776 |
| ENST00000380118.8 | hg19 | chr6 | 4,115,940 | 4,135,809 | 19,870 |
| ENST00000361538.6 | hg19 | chr6 | 4,115,940 | 4,135,831 | 19,892 |
| ENST00000465828.5 | hg19 | chr6 | 4,115,941 | 4,135,791 | 19,851 |
Genome browser