CLTA clathrin light chain A
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| Uncertain significance | 0 | 28 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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32 |
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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
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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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| 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 | LCA |
| MIM | 118960 OMIM |
| HGNC | HGNC:2090 HGNC |
| Ensembl | ENSG00000122705 Ensembl |
| AllianceGenome | HGNC:2090 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000466396.6 | hg38 | chr9 | 36,190,921 | 36,212,059 | 21,139 |
| ENST00000396603.6 | hg38 | chr9 | 36,190,963 | 36,212,059 | 21,097 |
| ENST00000470744.5 | hg38 | chr9 | 36,190,932 | 36,212,058 | 21,127 |
| ENST00000540080.5 | hg38 | chr9 | 36,190,856 | 36,212,061 | 21,206 |
| ENST00000242285.11 | hg38 | chr9 | 36,190,921 | 36,212,059 | 21,139 |
| ENST00000345519.10 | hg38 | chr9 | 36,190,921 | 36,212,059 | 21,139 |
| ENST00000540080.5 | hg19 | chr9 | 36,190,853 | 36,212,058 | 21,206 |
| ENST00000242285.11 | hg19 | chr9 | 36,190,918 | 36,212,056 | 21,139 |
| ENST00000345519.10 | hg19 | chr9 | 36,190,918 | 36,212,056 | 21,139 |
| ENST00000466396.6 | hg19 | chr9 | 36,190,918 | 36,212,056 | 21,139 |
| ENST00000470744.5 | hg19 | chr9 | 36,190,929 | 36,212,055 | 21,127 |
| ENST00000396603.6 | hg19 | chr9 | 36,190,960 | 36,212,056 | 21,097 |
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