MTX2 metaxin 2
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 8 |
| Likely pathogenic | 0 | 2 |
| Benign | 0 | 2 |
| Uncertain significance | 0 | 24 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
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0 |
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0 |
 |
28 |
 |
8 |
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
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
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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 | ||||||||||||||
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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 | MDPS |
| SYNONYM | metaxin-2 |
| MIM | 608555 OMIM |
| HGNC | HGNC:7506 HGNC |
| Ensembl | ENSG00000128654 Ensembl |
| AllianceGenome | HGNC:7506 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000249442.11 | hg38 | chr2 | 176,269,442 | 176,338,025 | 68,584 |
| ENST00000443241.5 | hg38 | chr2 | 176,269,470 | 176,337,679 | 68,210 |
| ENST00000249442.11 | hg19 | chr2 | 177,134,170 | 177,202,753 | 68,584 |
| ENST00000443241.5 | hg19 | chr2 | 177,134,198 | 177,202,407 | 68,210 |
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