| Variant ID | 21756 |
|---|---|
| Entrez Gene ID | 4685 |
| Gene | NCAM2 (GeneCards) |
| Location | hg19 21:22658986-22658986
hg38 21:21286666-21286666 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000021.8:g.22658986 T>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 | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3478 |
| CADD Raw score (version 1.3) | 0.29304 (Deleterious) |
| FATHMM raw prediction score | 0.30152 (Tolerated) |
| Deleterious probability by DeFine | 0.3459 (Neutral) |
| Entrez Gene ID | 4685 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NCAM2 (GeneCards) |
| Number of variants in NCAM2 in this database | 12 (view all the variants) |
| Full name | neural cell adhesion molecule 2 |
| Band | 21q21.1 |
| Other IDs | Vega: OTTHUMG00000078121 OMIM: 602040 HGNC: HGNC:7657 Ensembl: ENSG00000154654 |
| Other names | NCAM21 |
| Summary | The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein and may function in selective fasciculation and zone-to-zone projection of the primary olfactory axons. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.15 (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; |