| Variant ID | 29738 |
|---|---|
| Entrez Gene ID | 10752 |
| Gene | CHL1 (GeneCards) |
| Location | hg19 3:386367-386367
hg38 3:344684-344684 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000003.11:g.386367 C>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | -0.4848 |
| CADD Raw score (version 1.3) | 1.72145 (Deleterious) |
| FATHMM raw prediction score | 0.8767 (Tolerated) |
| SIFT score | 0.239 (Tolerated) |
| LRT score | 0.544 (Tolerated) |
| MutationTaster score | 0.99 (Tolerated) |
| MutatioinAssessor score | -0.01 (Tolerated) |
| PROVEAN score | -1.03 (Tolerated) |
| MetaSVM score | -1.018 (Tolerated) |
| MetaLR score | 0.1 (Tolerated) |
| MCAP score | 0.008 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 0.807 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.884 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.992 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 3.124 |
| Deleterious probability by iFish2 | 0.0159 (Neutral) |
| Deleterious probability by DeFine | 0.7982 (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 | 28867142.28 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |