| Variant ID | 1460 |
|---|---|
| Entrez Gene ID | 4684 |
| Gene | NCAM1 (GeneCards) |
| Location | hg19 11:113092030-113092030
hg38 11:113221308-113221308 |
| Disease | Multiple Sclerosis (view all the variants in this disease) |
| Method | sequencing |
| Mutation(HGVS format) | NC_000011.9:g.113092030_113092030 del (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 358 |
| Amino acid changes in protein | R > * |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_001076682.3 |
| mRNA length | 4944 |
| Reference length | 135006516 |
| Deleterious probability by DeFine | 0.8688 (Deleterious) |
|---|
| Entrez Gene ID | 4684 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NCAM1 (GeneCards) |
| Number of variants in NCAM1 in this database | 5 (view all the variants) |
| Full name | neural cell adhesion molecule 1 |
| Band | 11q23.2 |
| Other IDs | Vega: OTTHUMG00000167196 OMIM: 116930 HGNC: HGNC:7656 Ensembl: ENSG00000149294 |
| Other names | CD56, NCAM, MSK39 |
| Summary | This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during development and differentiation. The encoded protein has been shown to be involved in development of the nervous system, and for cells involved in the expansion of T cells and dendritic cells which play an important role in immune surveillance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011] |
| Individual ID | 27932211.07 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27932211 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Multiple Sclerosis (view all the variants in this disease) |
| OMIM ID | 126200 |
| Pubmed ID | 27932211 |
|---|---|
| Title | A novel class of somatic mutations in blood detected preferentially in CD8+ cells. |
| Journal | Clinical Immunology |
| Publication date | 2017.02 |
| Disease | Multiple Sclerosis;neurological autoimmune disease |
| Number of cases | Male cases: 4; Female cases: 8; |