GTF2A1L general transcription factor IIA subunit 1 like
Information
- Symbol
- GTF2A1L
- Type
- protein-coding
- Description
- general transcription factor IIA subunit 1 like
- Entrez Gene ID
- 11036
- Genome
- hg19
- Position
- chr2:48,844,995-48,906,743
- Genome
- hg38
- Position
- chr2:48,617,856-48,679,604
- MIM
- 605358 OMIM
- HGNC
- HGNC:30727 HGNC
- Ensembl
- ENSG00000242441 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 66 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
68 |
 |
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 | |||||||||||
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 | ALF |
| MIM | 605358 OMIM |
| HGNC | HGNC:30727 HGNC |
| Ensembl | ENSG00000242441 Ensembl |
| AllianceGenome | HGNC:30727 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000403751.8 | hg38 | chr2 | 48,617,856 | 48,679,604 | 61,749 |
| ENST00000430487.6 | hg38 | chr2 | 48,617,798 | 48,679,605 | 61,808 |
| ENST00000430487.6 | hg19 | chr2 | 48,844,937 | 48,906,744 | 61,808 |
| ENST00000403751.8 | hg19 | chr2 | 48,844,995 | 48,906,743 | 61,749 |
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