| Variant ID | 4584 |
|---|---|
| Entrez Gene ID | 10752 |
| Gene | CHL1 (GeneCards) |
| Location | hg19 3:552552-552552
hg38 3:510869-510869 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.552552 A>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 |
|---|---|
| EIGEN score | -0.3996 |
| CADD Raw score (version 1.3) | -0.360888 (Deleterious) |
| FATHMM raw prediction score | 0.08426 (Tolerated) |
| Deleterious probability by DeFine | 0.5071 (Deleterious) |
| Entrez Gene ID | 10752 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CHL1 (GeneCards) |
| Number of variants in CHL1 in this database | 4 (view all the variants) |
| Full name | cell adhesion molecule L1 like |
| Band | 3p26.3 |
| Other IDs | Vega: OTTHUMG00000090601 OMIM: 607416 HGNC: HGNC:1939 Ensembl: ENSG00000134121 |
| Other names | CALL, L1CAM2 |
| Summary | The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011] |
| Individual ID | 29217584.01 (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; |