CMC4 C-X9-C motif containing 4
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| not provided | 7 | 0 |
| Uncertain significance | 0 | 16 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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16 |
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2 |
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
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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
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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 | C6.1B |
| SYNONYM | MTCP1 |
| SYNONYM | MTCP1B |
| SYNONYM | MTCP1NB |
| SYNONYM | p8 |
| SYNONYM | p8MTCP1 |
| MIM | 301088 OMIM |
| HGNC | HGNC:35428 HGNC |
| Ensembl | ENSG00000182712 Ensembl |
| AllianceGenome | HGNC:35428 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000369479.1 | hg38 | chrX | 155,061,628 | 155,065,368 | 3,741 |
| ENST00000369484.8 | hg38 | chrX | 155,061,622 | 155,071,136 | 9,515 |
| ENST00000369484.8 | hg19 | chrX | 154,289,897 | 154,299,411 | 9,515 |
| ENST00000369479.1 | hg19 | chrX | 154,289,903 | 154,293,643 | 3,741 |
| Key | Value |
|---|---|
| strand | - |
| UniProt | OG |
| start | 154,289,899 |
| Gene Symbol | CMC4 |
| Entrez GeneId | 100,272,147 |
| Chr Band | Xq28 |
| end | 154,299,546 |
| chr | chrX |
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