| Variant ID | 10435 |
|---|---|
| Entrez Gene ID | 23242 |
| Gene | COBL (GeneCards) |
| Location | hg19 7:52965384-52965384
hg38 7:52897691-52897691 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.52965384 G>C (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 | -0.3028 |
| CADD Raw score (version 1.3) | -0.301935 (Deleterious) |
| FATHMM raw prediction score | 0.08282 (Tolerated) |
| Deleterious probability by DeFine | 0.4028 (Neutral) |
| Entrez Gene ID | 23242 (NCBI Gene) |
|---|---|
| Official Gene Symbol | COBL (GeneCards) |
| Number of variants in COBL in this database | 33 (view all the variants) |
| Full name | cordon-bleu WH2 repeat protein |
| Band | 7p12.1 |
| Other IDs | Vega: OTTHUMG00000155999 OMIM: 610317 HGNC: HGNC:22199 Ensembl: ENSG00000106078 |
| Other names | None |
| Summary | This gene encodes a protein that contains WH2 domains (WASP, Wiskott-Aldrich syndrome protein, homology domain-2) that interact with actin. The encoded actin regulator protein is required for growth and assembly of brush border microvilli that play a role in maintaining intestinal homeostasis. A similar protein in mouse functions in midbrain neural tube closure. A pseudogene of this gene is located on chromosome X. [provided by RefSeq, Oct 2016] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |