MAMSTR MEF2 activating motif and SAP domain containing transcriptional regulator
Information
- Symbol
- MAMSTR
- Type
- protein-coding
- Description
- MEF2 activating motif and SAP domain containing transcriptional regulator
- Entrez Gene ID
- 284358
- Genome
- hg19
- Position
- chr19:49,215,982-49,222,982
- Genome
- hg38
- Position
- chr19:48,712,725-48,719,725
- MIM
- 610349 OMIM
- HGNC
- HGNC:26689 HGNC
- Ensembl
- ENSG00000176909 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 | MASTR |
| MIM | 610349 OMIM |
| HGNC | HGNC:26689 HGNC |
| Ensembl | ENSG00000176909 Ensembl |
| AllianceGenome | HGNC:26689 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000356751.8 | hg38 | chr19 | 48,712,996 | 48,716,957 | 3,962 |
| ENST00000318083.11 | hg38 | chr19 | 48,712,725 | 48,719,725 | 7,001 |
| ENST00000594582.1 | hg38 | chr19 | 48,712,997 | 48,717,021 | 4,025 |
| ENST00000318083.11 | hg19 | chr19 | 49,215,982 | 49,222,982 | 7,001 |
| ENST00000356751.8 | hg19 | chr19 | 49,216,253 | 49,220,214 | 3,962 |
| ENST00000594582.1 | hg19 | chr19 | 49,216,254 | 49,220,278 | 4,025 |
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