| Variant ID | 11394 |
|---|---|
| Entrez Gene ID | 64764 |
| Gene | CREB3L2 (GeneCards) |
| Location | hg19 7:137645710-137645710
hg38 7:137960964-137960964 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.137645710 C>G (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.249 |
| CADD Raw score (version 1.3) | -0.114367 (Deleterious) |
| FATHMM raw prediction score | 0.07965 (Tolerated) |
| Deleterious probability by DeFine | 0.1599 (Neutral) |
| Entrez Gene ID | 64764 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CREB3L2 (GeneCards) |
| Number of variants in CREB3L2 in this database | 3 (view all the variants) |
| Full name | cAMP responsive element binding protein 3 like 2 |
| Band | 7q33 |
| Other IDs | Vega: OTTHUMG00000155744 OMIM: 608834 HGNC: HGNC:23720 Ensembl: ENSG00000182158 |
| Other names | BBF2H7 |
| Summary | This gene encodes a member of the oasis bZIP transcription factor family. Members of this family can dimerize but form homodimers only. The encoded protein is a transcriptional activator. Translocations between this gene on chromosome 7 and the gene fused in sarcoma on chromosome 16 can be found in some tumors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] |
| Individual ID | 29217584.18 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |