C2CD4B C2 calcium dependent domain containing 4B
Information
- Symbol
- C2CD4B
- Type
- protein-coding
- Description
- C2 calcium dependent domain containing 4B
- Entrez Gene ID
- 388125
- Genome
- hg19
- Position
- chr15:62,455,734-62,457,484
- Genome
- hg38
- Position
- chr15:62,163,535-62,165,285
- MIM
- 610344 OMIM
- HGNC
- HGNC:33628 HGNC
- Ensembl
- ENSG00000205502 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 88 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
90 |
 |
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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| 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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| 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 | FAM148B |
| SYNONYM | NLF2 |
| MIM | 610344 OMIM |
| HGNC | HGNC:33628 HGNC |
| Ensembl | ENSG00000205502 Ensembl |
| AllianceGenome | HGNC:33628 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000380392.4 | hg38 | chr15 | 62,163,535 | 62,165,285 | 1,751 |
| ENST00000380392.4 | hg19 | chr15 | 62,455,734 | 62,457,484 | 1,751 |
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