| Variant ID | 25914 |
|---|---|
| Entrez Gene ID | 375449 |
| Gene | MAST4 (GeneCards) |
| Location | hg19 5:66033552-66033552
hg38 5:66737724-66737724 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000005.9:g.66033552 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0269 |
| CADD Raw score (version 1.3) | 0.041273 (Deleterious) |
| FATHMM raw prediction score | 0.15388 (Tolerated) |
| Deleterious probability by DeFine | 0.6477 (Deleterious) |
| 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 | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |