CCDC6 coiled-coil domain containing 6
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| not provided | 13 | 0 |
| Uncertain significance | 0 | 30 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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36 |
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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
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | ||||||||||||||
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 | D10S170 |
| SYNONYM | H4 |
| SYNONYM | PTC |
| SYNONYM | PTC1 |
| SYNONYM | TPC |
| SYNONYM | TST1 |
| MIM | 601985 OMIM |
| HGNC | HGNC:18782 HGNC |
| Ensembl | ENSG00000108091 Ensembl |
| AllianceGenome | HGNC:18782 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000263102.7 | hg38 | chr10 | 59,788,747 | 59,906,556 | 117,810 |
| ENST00000263102.7 | hg19 | chr10 | 61,548,505 | 61,666,314 | 117,810 |
| Key | Value |
|---|---|
| strand | - |
| UniProt | OG |
| start | 61,548,505 |
| Gene Symbol | CCDC6 |
| Entrez GeneId | 8,030 |
| Chr Band | 10q21 |
| end | 61,666,413 |
| chr | chr10 |
| Name | coiled-coil domain containing 6 |
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