PPM1H protein phosphatase, Mg2+/Mn2+ dependent 1H
Information
- Symbol
- PPM1H
- Type
- protein-coding
- Description
- protein phosphatase, Mg2+/Mn2+ dependent 1H
- Entrez Gene ID
- 57460
- Genome
- hg19
- Position
- chr12:63,037,774-63,328,930
- Genome
- hg38
- Position
- chr12:62,643,994-62,935,150
- MIM
- 616016 OMIM
- HGNC
- HGNC:18583 HGNC
- Ensembl
- ENSG00000111110 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Uncertain significance | 0 | 52 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
54 |
 |
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 | |||||||||||
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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 | ARHCL1 |
| SYNONYM | NERPP-2C |
| SYNONYM | URCC2 |
| MIM | 616016 OMIM |
| HGNC | HGNC:18583 HGNC |
| Ensembl | ENSG00000111110 Ensembl |
| AllianceGenome | HGNC:18583 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000228705.7 | hg38 | chr12 | 62,643,994 | 62,935,150 | 291,157 |
| ENST00000228705.7 | hg19 | chr12 | 63,037,774 | 63,328,930 | 291,157 |
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