PHLDA1 pleckstrin homology like domain family A member 1
Information
- Symbol
- PHLDA1
- Type
- protein-coding
- Description
- pleckstrin homology like domain family A member 1
- Entrez Gene ID
- 22822
- Genome
- hg19
- Position
- chr12:76,419,227-76,425,556
- Genome
- hg38
- Position
- chr12:76,025,447-76,031,776
- MIM
- 605335 OMIM
- HGNC
- HGNC:8933 HGNC
- Ensembl
- ENSG00000139289 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 48 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
48 |
 |
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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| 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 | DT1P1B11 |
| SYNONYM | PHRIP |
| SYNONYM | TDAG51 |
| MIM | 605335 OMIM |
| HGNC | HGNC:8933 HGNC |
| Ensembl | ENSG00000139289 Ensembl |
| AllianceGenome | HGNC:8933 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000266671.10 | hg38 | chr12 | 76,025,447 | 76,031,776 | 6,330 |
| ENST00000602540.5 | hg38 | chr12 | 76,025,447 | 76,031,604 | 6,158 |
| ENST00000602540.5 | hg19 | chr12 | 76,419,227 | 76,425,384 | 6,158 |
| ENST00000266671.10 | hg19 | chr12 | 76,419,227 | 76,425,556 | 6,330 |
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