| Variant ID | 17463 |
|---|---|
| Entrez Gene ID | 81624 |
| Gene | DIAPH3 (GeneCards) |
| Location | hg19 13:60701698-60701698
hg38 13:60127564-60127564 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.60701698 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| 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 |
|---|---|
| EIGEN score | -0.4032 |
| CADD Raw score (version 1.3) | 0.47117 (Deleterious) |
| FATHMM raw prediction score | 0.04184 (Tolerated) |
| Deleterious probability by DeFine | 0.5368 (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 | 29217584.10 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |