| Variant ID | 18163 |
|---|---|
| Entrez Gene ID | 9578 |
| Gene | CDC42BPB (GeneCards) |
| Location | hg19 14:103448914-103448914
hg38 14:102982577-102982577 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.103448914 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3496 |
| CADD Raw score (version 1.3) | -0.112664 (Deleterious) |
| FATHMM raw prediction score | 0.08158 (Tolerated) |
| Deleterious probability by DeFine | 0.2871 (Neutral) |
| Entrez Gene ID | 9578 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDC42BPB (GeneCards) |
| Number of variants in CDC42BPB in this database | 2 (view all the variants) |
| Full name | CDC42 binding protein kinase beta |
| Band | 14q32.32 |
| Other IDs | Vega: OTTHUMG00000171898 OMIM: 614062 HGNC: HGNC:1738 Ensembl: ENSG00000198752 |
| Other names | MRCKB |
| Summary | This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar gene in rat suggested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.07 (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; |