| Variant ID | 1232 |
|---|---|
| Entrez Gene ID | 1288 |
| Gene | COL4A6 (GeneCards) |
| Location | hg19 X:107414663-107414663
hg38 X:108171433-108171433 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000023.10:g.107414663_107414663 del (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 | NM_001847.3 |
| mRNA length | 6618 |
| Reference length | 155270560 |
| Deleterious probability by DeFine | 0.8929 (Deleterious) |
|---|
| Entrez Gene ID | 1288 (NCBI Gene) |
|---|---|
| Official Gene Symbol | COL4A6 (GeneCards) |
| Number of variants in COL4A6 in this database | 3 (view all the variants) |
| Full name | collagen type IV alpha 6 chain |
| Band | Xq22.3 |
| Other IDs | Vega: OTTHUMG00000022179 OMIM: 303631 HGNC: HGNC:2208 Ensembl: ENSG00000197565 |
| Other names | DFNX6, DELXq22.3, CXDELq22.3 |
| Summary | This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013] |
| Individual ID | 28867142.30 (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; |