| Variant ID | 2431 |
|---|---|
| Entrez Gene ID | 259266 |
| Gene | ASPM (GeneCards) |
| Location | hg19 1:197084957-197084957
hg38 1:197115827-197115827 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.197084957 T>C (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2302 |
| CADD Raw score (version 1.3) | 1.221249 (Deleterious) |
| FATHMM raw prediction score | 0.56271 (Tolerated) |
| Deleterious probability by DeFine | 0.0579 (Neutral) |
| Entrez Gene ID | 259266 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ASPM (GeneCards) |
| Number of variants in ASPM in this database | 2 (view all the variants) |
| Full name | abnormal spindle microtubule assembly |
| Band | 1q31.3 |
| Other IDs | Vega: OTTHUMG00000036277 OMIM: 605481 HGNC: HGNC:19048 Ensembl: ENSG00000066279 |
| Other names | ASP, MCPH5, Calmbp1 |
| Summary | This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011] |
| Individual ID | 29217584.13 (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; |