| Variant ID | 8624 |
|---|---|
| Entrez Gene ID | 375449 |
| Gene | MAST4 (GeneCards) |
| Location | hg19 5:65981778-65981778
hg38 5:66685950-66685950 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.65981778 C>T (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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4581 |
| CADD Raw score (version 1.3) | -0.233048 (Deleterious) |
| FATHMM raw prediction score | 0.1001 (Tolerated) |
| Deleterious probability by DeFine | 0.3344 (Neutral) |
| Entrez Gene ID | 375449 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MAST4 (GeneCards) |
| Number of variants in MAST4 in this database | 7 (view all the variants) |
| Full name | microtubule associated serine/threonine kinase family member 4 |
| Band | 5q12.3 |
| Other IDs | Vega: OTTHUMG00000152471 OMIM: 618002 HGNC: HGNC:19037 Ensembl: ENSG00000069020 |
| Other names | None |
| Summary | This gene encodes a member of the microtubule-associated serine/threonine protein kinases. The proteins in this family contain a domain that gives the kinase the ability to determine its own scaffold to control the effects of their kinase activities. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] |
| Individual ID | 29217584.17 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |