PHLDA2 pleckstrin homology like domain family A member 2
Information
- Symbol
- PHLDA2
- Type
- protein-coding
- Description
- pleckstrin homology like domain family A member 2
- Entrez Gene ID
- 7262
- Genome
- hg19
- Position
- chr11:2,949,503-2,950,650
- Genome
- hg38
- Position
- chr11:2,928,273-2,929,420
- MIM
- 602131 OMIM
- HGNC
- HGNC:12385 HGNC
- Ensembl
- ENSG00000181649 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 4 |
| 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
| 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 | BRW1C |
| SYNONYM | BWR1C |
| SYNONYM | HLDA2 |
| SYNONYM | IPL |
| SYNONYM | TSSC3 |
| MIM | 602131 OMIM |
| HGNC | HGNC:12385 HGNC |
| Ensembl | ENSG00000181649 Ensembl |
| AllianceGenome | HGNC:12385 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000314222.5 | hg38 | chr11 | 2,928,273 | 2,929,420 | 1,148 |
| ENST00000314222.5 | hg19 | chr11 | 2,949,503 | 2,950,650 | 1,148 |
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