| Variant ID | 15873 |
|---|---|
| Entrez Gene ID | 50863 |
| Gene | NTM (GeneCards) |
| Location | hg19 11:131775293-131775293
hg38 11:131905399-131905399 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.131775293 C>T (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) | 0.284779 (Deleterious) |
| FATHMM raw prediction score | 0.13139 (Tolerated) |
| Deleterious probability by DeFine | 0.7919 (Deleterious) |
| 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 | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female 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; |