| Variant ID | 34639 |
|---|---|
| Entrez Gene ID | 1778 |
| Gene | DYNC1H1 (GeneCards) |
| Location | hg19 14:102452300-102452300
hg38 14:101985963-101985963 |
| Disease | Micolissencephaly (view all the variants in this disease) |
| Method | Whole Exome Sequencing Sanger Sequencing |
| Mutation(HGVS format) | NC_000014.8:g.102452300 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 580 |
| Amino acid changes in protein | E > K |
| Position in cDNA | 1738 |
| Changes in cDNA | G > A |
| mRNA accession | NM_001376.4 |
| mRNA length | NA |
| Reference length | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 953442 |
| Variant occurences in COSMIC | 1(endometrium) |
| EIGEN score | 1.0412 |
| CADD Raw score (version 1.3) | 7.015357 (Deleterious) |
| FATHMM raw prediction score | 0.9879 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.245 (Deleterious) |
| PROVEAN score | -3.54 (Deleterious) |
| MetaSVM score | 0.095 (Deleterious) |
| MetaLR score | 0.517 (Deleterious) |
| MCAP score | 0.858 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.85 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.597 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.155 |
| Deleterious probability by iFish2 | 0.9779 (Deleterious) |
| Deleterious probability by DeFine | 0.9556 (Deleterious) |
| Entrez Gene ID | 1778 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DYNC1H1 (GeneCards) |
| Number of variants in DYNC1H1 in this database | 6 (view all the variants) |
| Full name | dynein cytoplasmic 1 heavy chain 1 |
| Band | 14q32.31 |
| Other IDs | Vega: OTTHUMG00000171644 OMIM: 600112 HGNC: HGNC:2961 Ensembl: ENSG00000197102 |
| Other names | p22, DHC1, DNCL, DYHC, HL-3, CMT2O, DHC1a, DNCH1, DNECL, Dnchc1, SMALED1 |
| Summary | Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008] |
| Individual ID | 26395554.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 26395554 |
| Whose mosaic mutation | Father |
| Phenotype | 1 |
| Disease | Micolissencephaly (view all the variants in this disease) |
| OMIM ID | 600112 |
| Pubmed ID | 26395554 |
|---|---|
| Title | Mosaic parental germline mutations causing recurrent forms of malformations of cortical development |
| Journal | European Journal of Human Genetics |
| Publication date | 2015.09 |
| Disease | Malformations of cortical development |
| Number of cases | Male cases: 2; Female cases: 1; cases of unknown sex: 1; |