| Variant ID | 29319 |
|---|---|
| Entrez Gene ID | 1213 |
| Gene | CLTC (GeneCards) |
| Location | hg19 17:57743556-57743556
hg38 17:59666195-59666195 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000017.10:g.57743556 T>A (Genome Assembly: GRCh37) |
| 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.3181 |
| CADD Raw score (version 1.3) | 1.156103 (Deleterious) |
| FATHMM raw prediction score | 0.9668 (Tolerated) |
| Deleterious probability by DeFine | 0.7996 (Deleterious) |
| Entrez Gene ID | 1213 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CLTC (GeneCards) |
| Number of variants in CLTC in this database | 2 (view all the variants) |
| Full name | clathrin heavy chain |
| Band | 17q23.1 |
| Other IDs | Vega: OTTHUMG00000134279 OMIM: 118955 HGNC: HGNC:2092 Ensembl: ENSG00000141367 |
| Other names | Hc, CHC, CHC17, MRD56, CLH-17, CLTCL2 |
| Summary | Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules. The basic subunit of the clathrin coat is composed of three heavy chains and three light chains. [provided by RefSeq, Jul 2008] |
| Individual ID | 28503910.196 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |