DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1
Information
- Symbol
- DYNC2LI1
- Type
- protein-coding
- Description
- dynein cytoplasmic 2 light intermediate chain 1
- Entrez Gene ID
- 51626
- Genome
- hg19
- Position
- chr2:44,001,221-44,037,136
- Genome
- hg38
- Position
- chr2:43,774,082-43,809,997
- MIM
- 617083 OMIM
- HGNC
- HGNC:24595 HGNC
- Ensembl
- ENSG00000138036 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 24 |
| Likely pathogenic | 0 | 8 |
| Benign | 0 | 88 |
| Likely benign | 0 | 112 |
| Conflicting classifications of pathogenicity | 0 | 6 |
| Uncertain significance | 0 | 120 |
Ranking
| ClinVar | |
|---|---|
![]() |
0 |
![]() |
0 |
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28 |
![]() |
308 |
![]() |
12 |
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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| Category | : |
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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 | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| 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 | CGI-60 |
| SYNONYM | D2LIC |
| SYNONYM | LIC3 |
| MIM | 617083 OMIM |
| HGNC | HGNC:24595 HGNC |
| Ensembl | ENSG00000138036 Ensembl |
| AllianceGenome | HGNC:24595 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000398823.6 | hg38 | chr2 | 43,774,064 | 43,795,183 | 21,120 |
| ENST00000406852.7 | hg38 | chr2 | 43,774,049 | 43,795,179 | 21,131 |
| ENST00000605786.5 | hg38 | chr2 | 43,774,082 | 43,809,997 | 35,916 |
| ENST00000260605.12 | hg38 | chr2 | 43,774,039 | 43,810,010 | 35,972 |
| ENST00000260605.12 | hg19 | chr2 | 44,001,178 | 44,037,149 | 35,972 |
| ENST00000406852.7 | hg19 | chr2 | 44,001,188 | 44,022,318 | 21,131 |
| ENST00000398823.6 | hg19 | chr2 | 44,001,203 | 44,022,322 | 21,120 |
| ENST00000605786.5 | hg19 | chr2 | 44,001,221 | 44,037,136 | 35,916 |
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