PLAAT1 phospholipase A and acyltransferase 1
Information
- Symbol
- PLAAT1
- Type
- protein-coding
- Description
- phospholipase A and acyltransferase 1
- Entrez Gene ID
- 57110
- Genome
- hg19
- Position
- chr3:192,959,011-192,988,644
- Genome
- hg38
- Position
- chr3:193,241,222-193,270,855
- MIM
- 606487 OMIM
- HGNC
- HGNC:14922 HGNC
- Ensembl
- ENSG00000127252 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 20 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
24 |
 |
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
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MGeND data only
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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 | A-C1 |
| SYNONYM | H-REV107 |
| SYNONYM | HRASLS |
| SYNONYM | HRASLS1 |
| SYNONYM | HRSL1 |
| SYNONYM | HSD28 |
| SYNONYM | PLA/AT1 |
| SYNONYM | PLAAT-1 |
| MIM | 606487 OMIM |
| HGNC | HGNC:14922 HGNC |
| Ensembl | ENSG00000127252 Ensembl |
| AllianceGenome | HGNC:14922 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000650797.1 | hg38 | chr3 | 193,241,128 | 193,270,854 | 29,727 |
| ENST00000264735.4 | hg38 | chr3 | 193,241,222 | 193,270,855 | 29,634 |
| ENST00000650797.1 | hg19 | chr3 | 192,958,917 | 192,988,643 | 29,727 |
| ENST00000264735.4 | hg19 | chr3 | 192,959,011 | 192,988,644 | 29,634 |
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