ARX aristaless related homeobox
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 37 | 188 |
| Likely pathogenic | 14 | 60 |
| Benign | 0 | 54 |
| Likely benign | 0 | 688 |
| Conflicting classifications of pathogenicity | 0 | 90 |
| not provided | 6 | 2 |
| Uncertain significance | 6 | 546 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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206 |
![]() |
1,256 |
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34 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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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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| Category | : |
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| Search word | : | |
| 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 | CT121 |
| SYNONYM | EIEE1 |
| SYNONYM | ISSX |
| SYNONYM | MRX29 |
| SYNONYM | MRX32 |
| SYNONYM | MRX33 |
| SYNONYM | MRX36 |
| SYNONYM | MRX38 |
| SYNONYM | MRX43 |
| SYNONYM | MRX54 |
| SYNONYM | MRX76 |
| SYNONYM | MRX87 |
| SYNONYM | MRXS1 |
| SYNONYM | PRTS |
| MIM | 300382 OMIM |
| HGNC | HGNC:18060 HGNC |
| Ensembl | ENSG00000004848 Ensembl |
| AllianceGenome | HGNC:18060 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000379044.5 | hg38 | chrX | 25,003,694 | 25,015,965 | 12,272 |
| ENST00000379044.5 | hg19 | chrX | 25,021,811 | 25,034,082 | 12,272 |
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