CAMTA2 calmodulin binding transcription activator 2
Information
- Symbol
- CAMTA2
- Type
- protein-coding
- Description
- calmodulin binding transcription activator 2
- Entrez Gene ID
- 23125
- Genome
- hg19
- Position
- chr17:4,871,292-4,890,407
- Genome
- hg38
- Position
- chr17:4,967,997-4,987,112
- MIM
- 611508 OMIM
- HGNC
- HGNC:18807 HGNC
- Ensembl
- ENSG00000108509 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 8 |
Likely benign | 0 | 10 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 144 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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2 |
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158 |
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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
[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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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 | |||
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
MIM | 611508 OMIM |
HGNC | HGNC:18807 HGNC |
Ensembl | ENSG00000108509 Ensembl |
AllianceGenome | HGNC:18807 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000414043.7 | hg38 | chr17 | 4,967,997 | 4,987,112 | 19,116 |
ENST00000381311.9 | hg38 | chr17 | 4,967,997 | 4,987,650 | 19,654 |
ENST00000348066.8 | hg38 | chr17 | 4,967,997 | 4,987,675 | 19,679 |
ENST00000572543.5 | hg38 | chr17 | 4,967,997 | 4,987,641 | 19,645 |
ENST00000361571.9 | hg38 | chr17 | 4,967,997 | 4,987,370 | 19,374 |
ENST00000414043.7 | hg19 | chr17 | 4,871,292 | 4,890,407 | 19,116 |
ENST00000361571.9 | hg19 | chr17 | 4,871,292 | 4,890,665 | 19,374 |
ENST00000572543.5 | hg19 | chr17 | 4,871,292 | 4,890,936 | 19,645 |
ENST00000381311.9 | hg19 | chr17 | 4,871,292 | 4,890,945 | 19,654 |
ENST00000348066.8 | hg19 | chr17 | 4,871,292 | 4,890,970 | 19,679 |
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