| Variant ID | 4932 |
|---|---|
| Entrez Gene ID | 5067 |
| Gene | CNTN3 (GeneCards) |
| Location | hg19 3:74543206-74543206
hg38 3:74494055-74494055 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.74543206 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0.0064 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs147310530 |
| EIGEN score | -0.0284 |
| CADD Raw score (version 1.3) | 0.144677 (Deleterious) |
| FATHMM raw prediction score | 0.09931 (Tolerated) |
| Deleterious probability by DeFine | 0.5694 (Deleterious) |
| Entrez Gene ID | 5067 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CNTN3 (GeneCards) |
| Number of variants in CNTN3 in this database | 12 (view all the variants) |
| Full name | contactin 3 |
| Band | 3p12.3 |
| Other IDs | Vega: OTTHUMG00000158813 OMIM: 601325 HGNC: HGNC:2173 Ensembl: ENSG00000113805 |
| Other names | PCS, PANG, BIG-1 |
| Summary | None |
| Individual ID | 29217584.08 (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; |