| Variant ID | 1394 |
|---|---|
| Entrez Gene ID | 3681 |
| Gene | ITGAD (GeneCards) |
| Location | hg19 16:31424461-31424461
hg38 16:31413140-31413140 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000016.9:g.31424461_31424461 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_005353.2 |
| mRNA length | 3912 |
| Reference length | 90354753 |
| Deleterious probability by DeFine | 0.9285 (Deleterious) |
|---|
| Entrez Gene ID | 3681 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ITGAD (GeneCards) |
| Number of variants in ITGAD in this database | 3 (view all the variants) |
| Full name | integrin subunit alpha D |
| Band | 16p11.2 |
| Other IDs | Vega: OTTHUMG00000176614 OMIM: 602453 HGNC: HGNC:6146 Ensembl: ENSG00000156886 |
| Other names | ADB2, CD11D |
| Summary | This gene belongs to the beta-2 integrin family of membrane glycoproteins, which are are composed of non-covalently linked alpha and beta subunits to form a heterodimer. It encodes the alpha subunit of the cell surface heterodimers and is involved in the activation and adhesion functions of leukocytes. The gene is located about 11kb downstream of the integrin subunit alpha X gene, another member of the integrin family. It is expressed in the tissue and circulating myeloid leukocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] |
| Individual ID | 28867142.33 (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; |