| Variant ID | 23272 |
|---|---|
| Entrez Gene ID | 1780 |
| Gene | DYNC1I1 (GeneCards) |
| Location | hg19 7:95430386-95430386
hg38 7:95801074-95801074 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000007.13:g.95430386 C>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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5506 |
| CADD Raw score (version 1.3) | 0.327421 (Deleterious) |
| FATHMM raw prediction score | 0.79428 (Tolerated) |
| Deleterious probability by DeFine | 0.4473 (Neutral) |
| Entrez Gene ID | 1780 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DYNC1I1 (GeneCards) |
| Number of variants in DYNC1I1 in this database | 7 (view all the variants) |
| Full name | dynein cytoplasmic 1 intermediate chain 1 |
| Band | 7q21.3 |
| Other IDs | Vega: OTTHUMG00000153983 OMIM: 603772 HGNC: HGNC:2963 Ensembl: ENSG00000158560 |
| Other names | DNCI1, DNCIC1 |
| Summary | None |
| Individual ID | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |