CLTRN collectrin, amino acid transport regulator
Information
- Symbol
- CLTRN
- Type
- protein-coding
- Description
- collectrin, amino acid transport regulator
- Entrez Gene ID
- 57393
- Genome
- hg19
- Position
- chrX:15,645,441-15,682,928
- Genome
- hg38
- Position
- chrX:15,627,318-15,664,805
- MIM
- 300631 OMIM
- HGNC
- HGNC:29437 HGNC
- Ensembl
- ENSG00000147003 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| not provided | 7 | 0 |
| Uncertain significance | 0 | 14 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
16 |
 |
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
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 | |||||||||||
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
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| Category | : |
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| 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 | NX-17 |
| SYNONYM | NX17 |
| SYNONYM | TMEM27 |
| MIM | 300631 OMIM |
| HGNC | HGNC:29437 HGNC |
| Ensembl | ENSG00000147003 Ensembl |
| AllianceGenome | HGNC:29437 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000380342.4 | hg38 | chrX | 15,627,318 | 15,664,805 | 37,488 |
| ENST00000650271.1 | hg38 | chrX | 15,627,439 | 15,675,012 | 47,574 |
| ENST00000380342.4 | hg19 | chrX | 15,645,441 | 15,682,928 | 37,488 |
| ENST00000650271.1 | hg19 | chrX | 15,645,562 | 15,693,135 | 47,574 |
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