| Variant ID | 1256 |
|---|---|
| Entrez Gene ID | 56171 |
| Gene | DNAH7 (GeneCards) |
| Location | hg19 2:196651885-196651885
hg38 2:195787161-195787161 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | Hiseq |
| Mutation(HGVS format) | NC_000002.11:g.196651885_196651885 del (Genome Assembly: GRCh37) |
| 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_018897.2 |
| mRNA length | 12408 |
| Reference length | 243199373 |
| Deleterious probability by DeFine | 0.8883 (Deleterious) |
|---|
| Entrez Gene ID | 56171 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DNAH7 (GeneCards) |
| Number of variants in DNAH7 in this database | 5 (view all the variants) |
| Full name | dynein axonemal heavy chain 7 |
| Band | 2q32.3 |
| Other IDs | Vega: OTTHUMG00000154438 OMIM: 610061 HGNC: HGNC:18661 Ensembl: ENSG00000118997 |
| Other names | None |
| Summary | DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 2008] |
| Individual ID | 28235832.04 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28235832 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28235832 |
|---|---|
| Title | One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin. |
| Journal | Genome Research |
| Publication date | 2017.04 |
| Disease | Autism Spectrum Disorders |
| Number of cases | Male cases: 3; cases of unknown sex: 1; |