| Variant ID | 27340 |
|---|---|
| Entrez Gene ID | 50863 |
| Gene | NTM (GeneCards) |
| Location | hg19 11:131580577-131580577
hg38 11:131710683-131710683 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000011.9:g.131580577 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.096102 (Deleterious) |
| FATHMM raw prediction score | 0.06845 (Tolerated) |
| Deleterious probability by DeFine | 0.4637 (Neutral) |
| Entrez Gene ID | 50863 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NTM (GeneCards) |
| Number of variants in NTM in this database | 14 (view all the variants) |
| Full name | neurotrimin |
| Band | 11q25 |
| Other IDs | Vega: OTTHUMG00000066364 OMIM: 607938 HGNC: HGNC:17941 Ensembl: ENSG00000182667 |
| Other names | HNT, NTRI, CEPU-1, IGLON2 |
| Summary | This gene encodes a member of the IgLON (LAMP, OBCAM, Ntm) family of immunoglobulin (Ig) domain-containing glycosylphosphatidylinositol (GPI)-anchored cell adhesion molecules. The encoded protein may promote neurite outgrowth and adhesion via a homophilic mechanism. This gene is closely linked to a related family member, opioid binding protein/cell adhesion molecule-like (OPCML), on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009] |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |