| Variant ID | 21221 |
|---|---|
| Entrez Gene ID | 22974 |
| Gene | TPX2 (GeneCards) |
| Location | hg19 20:30383290-30383290
hg38 20:31795487-31795487 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.30383290 G>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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1625 |
| CADD Raw score (version 1.3) | -0.377955 (Deleterious) |
| FATHMM raw prediction score | 0.10606 (Tolerated) |
| Deleterious probability by DeFine | 0.5114 (Deleterious) |
| Entrez Gene ID | 22974 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TPX2 (GeneCards) |
| Number of variants in TPX2 in this database | 2 (view all the variants) |
| Full name | TPX2, microtubule nucleation factor |
| Band | 20q11.21 |
| Other IDs | Vega: OTTHUMG00000032190 OMIM: 605917 HGNC: HGNC:1249 Ensembl: ENSG00000088325 |
| Other names | DIL2, p100, DIL-2, HCTP4, FLS353, HCA519, REPP86, C20orf1, C20orf2, GD:C20orf1 |
| Summary | None |
| Individual ID | 29217584.08 (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; |