| Variant ID | 29579 |
|---|---|
| Entrez Gene ID | 51164 |
| Gene | DCTN4 (GeneCards) |
| Location | hg19 5:150095135-150095135
hg38 5:150715573-150715573 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000005.9:g.150095135 G>A (Genome Assembly: hg19) |
| 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs202010296 |
| EIGEN score | 0.6037 |
| CADD Raw score (version 1.3) | 0.133502 (Deleterious) |
| FATHMM raw prediction score | 0.96084 (Tolerated) |
| Deleterious probability by DeFine | 0.6192 (Deleterious) |
| Entrez Gene ID | 51164 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DCTN4 (GeneCards) |
| Number of variants in DCTN4 in this database | 1 (view all the variants) |
| Full name | dynactin subunit 4 |
| Band | 5q33.1 |
| Other IDs | Vega: OTTHUMG00000130079 OMIM: 614758 HGNC: HGNC:15518 Ensembl: ENSG00000132912 |
| Other names | P62, DYN4 |
| Summary | None |
| Individual ID | 28714951.255 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |