CCDC51 coiled-coil domain containing 51
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 42 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
50 |
 |
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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| 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 | MITOK |
| MIM | 618585 OMIM |
| HGNC | HGNC:25714 HGNC |
| Ensembl | ENSG00000164051 Ensembl |
| AllianceGenome | HGNC:25714 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000447018.5 | hg38 | chr3 | 48,432,164 | 48,440,081 | 7,918 |
| ENST00000395694.7 | hg38 | chr3 | 48,432,173 | 48,440,119 | 7,947 |
| ENST00000442740.1 | hg38 | chr3 | 48,432,195 | 48,440,100 | 7,906 |
| ENST00000412398.6 | hg38 | chr3 | 48,432,170 | 48,440,119 | 7,950 |
| ENST00000447018.5 | hg19 | chr3 | 48,473,574 | 48,481,491 | 7,918 |
| ENST00000412398.6 | hg19 | chr3 | 48,473,580 | 48,481,529 | 7,950 |
| ENST00000395694.7 | hg19 | chr3 | 48,473,583 | 48,481,529 | 7,947 |
| ENST00000442740.1 | hg19 | chr3 | 48,473,605 | 48,481,510 | 7,906 |
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