ZCCHC8 zinc finger CCHC-type containing 8
Information
- Symbol
- ZCCHC8
- Type
- protein-coding
- Description
- zinc finger CCHC-type containing 8
- Entrez Gene ID
- 55596
- Genome
- hg19
- Position
- chr12:122,956,147-122,985,479
- Genome
- hg38
- Position
- chr12:122,471,600-122,500,932
- MIM
- 616381 OMIM
- HGNC
- HGNC:25265 HGNC
- Ensembl
- ENSG00000033030 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Likely pathogenic | 0 | 6 |
| Benign | 0 | 24 |
| Likely benign | 0 | 246 |
| Conflicting classifications of pathogenicity | 0 | 12 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 390 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
62 |
 |
604 |
 |
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
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Filtering | : |
| 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
|
| Category | : |
|
| 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 | PFBMFT5 |
| MIM | 616381 OMIM |
| HGNC | HGNC:25265 HGNC |
| Ensembl | ENSG00000033030 Ensembl |
| AllianceGenome | HGNC:25265 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000536306.5 | hg38 | chr12 | 122,472,870 | 122,499,325 | 26,456 |
| ENST00000543897.5 | hg38 | chr12 | 122,471,600 | 122,500,595 | 28,996 |
| ENST00000633063.3 | hg38 | chr12 | 122,471,600 | 122,500,932 | 29,333 |
| ENST00000543897.5 | hg19 | chr12 | 122,956,147 | 122,985,142 | 28,996 |
| ENST00000633063.3 | hg19 | chr12 | 122,956,147 | 122,985,479 | 29,333 |
| ENST00000536306.5 | hg19 | chr12 | 122,957,417 | 122,983,872 | 26,456 |
| Key | Value |
|---|---|
| strand | - |
| start | 122,956,145 |
| Gene Symbol | ZCCHC8 |
| Entrez GeneId | 55,596 |
| Chr Band | 12q24.31 |
| end | 122,985,619 |
| chr | chr12 |
| Name | zinc finger, CCHC domain containing 8 |
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