| Variant ID | 16178 |
|---|---|
| Entrez Gene ID | 1272 |
| Gene | CNTN1 (GeneCards) |
| Location | hg19 12:41087986-41087986
hg38 12:40694184-40694184 |
| Disease | Asymptomatic |
| Method | HiSeq 2000 |
| Mutation(HGVS format) | NC_000012.11:g.41087986 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.012 |
| CADD Raw score (version 1.3) | 0.081686 (Deleterious) |
| FATHMM raw prediction score | 0.1541 (Tolerated) |
| Deleterious probability by DeFine | 0.5098 (Deleterious) |
| Entrez Gene ID | 1272 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CNTN1 (GeneCards) |
| Number of variants in CNTN1 in this database | 6 (view all the variants) |
| Full name | contactin 1 |
| Band | 12q12 |
| Other IDs | Vega: OTTHUMG00000169362 OMIM: 600016 HGNC: HGNC:2171 Ensembl: ENSG00000018236 |
| Other names | F3, GP135, MYPCN |
| Summary | The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] |
| Individual ID | 29217584.04 (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; |