| Variant ID | 24349 |
|---|---|
| Entrez Gene ID | 23261 |
| Gene | CAMTA1 (GeneCards) |
| Location | hg19 1:7187349-7187349
hg38 1:7127289-7127289 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000001.10:g.7187349 C>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.059 |
| CADD Raw score (version 1.3) | 0.218389 (Deleterious) |
| FATHMM raw prediction score | 0.15505 (Tolerated) |
| Deleterious probability by DeFine | 0.7778 (Deleterious) |
| Entrez Gene ID | 23261 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CAMTA1 (GeneCards) |
| Number of variants in CAMTA1 in this database | 4 (view all the variants) |
| Full name | calmodulin binding transcription activator 1 |
| Band | 1p36.31-p36.23 |
| Other IDs | Vega: OTTHUMG00000001212 OMIM: 611501 HGNC: HGNC:18806 Ensembl: ENSG00000171735 |
| Other names | CANPMR |
| Summary | The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor. However, a translocation event is sometimes observed between this gene and the WWTR1 gene, with the resulting WWTR1-CAMTA1 oncoprotein leading to epithelioid hemangioendothelioma, a malignant vascular cancer. [provided by RefSeq, Mar 2017] |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |