| Variant ID | 29871 |
|---|---|
| Entrez Gene ID | 81624 |
| Gene | DIAPH3 (GeneCards) |
| Location | hg19 13:60548519-60548519
hg38 13:59974385-59974385 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000013.10:g.60548519 C>T (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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0.00006476 |
|---|---|
| EIGEN score | 1.4903 |
| CADD Raw score (version 1.3) | 1.40443 (Deleterious) |
| FATHMM raw prediction score | 0.9745 (Tolerated) |
| Deleterious probability by DeFine | 0.8924 (Deleterious) |
| Entrez Gene ID | 81624 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DIAPH3 (GeneCards) |
| Number of variants in DIAPH3 in this database | 9 (view all the variants) |
| Full name | diaphanous related formin 3 |
| Band | 13q21.2 |
| Other IDs | Vega: OTTHUMG00000017004 OMIM: 614567 HGNC: HGNC:15480 Ensembl: ENSG00000139734 |
| Other names | AN, DIA2, DRF3, AUNA1, NSDAN, diap3, mDia2 |
| Summary | This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] |
| Individual ID | 28867142.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female 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; |