| Variant ID | 18027 |
|---|---|
| Entrez Gene ID | 161198 |
| Gene | CLEC14A (GeneCards) |
| Location | hg19 14:39202422-39202422
hg38 14:38733218-38733218 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.39202422 G>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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003234 |
|---|---|
| EIGEN score | 0.0212 |
| CADD Raw score (version 1.3) | -0.016318 (Deleterious) |
| FATHMM raw prediction score | 0.15446 (Tolerated) |
| Deleterious probability by DeFine | 0.5794 (Deleterious) |
| Entrez Gene ID | 161198 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CLEC14A (GeneCards) |
| Number of variants in CLEC14A in this database | 6 (view all the variants) |
| Full name | C-type lectin domain containing 14A |
| Band | 14q21.1 |
| Other IDs | Vega: OTTHUMG00000140248 OMIM: 616845 HGNC: HGNC:19832 Ensembl: ENSG00000176435 |
| Other names | CEG1, EGFR-5, C14orf27 |
| Summary | This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This family member plays a role in cell-cell adhesion and angiogenesis. It functions in filopodia formation, cell migration and tube formation. Due to its presence at higher levels in tumor endothelium than in normal tissue endothelium, it is considered to be a candidate for tumor vascular targeting. [provided by RefSeq, Jan 2012] |
| 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; |