| Variant ID | 23788 |
|---|---|
| Entrez Gene ID | 5587 |
| Gene | PRKD1 (GeneCards) |
| Location | hg19 14:30710160-30710160
hg38 14:30240954-30240954 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000014.8:g.30710160 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2852 |
| CADD Raw score (version 1.3) | 0.471982 (Deleterious) |
| FATHMM raw prediction score | 0.34922 (Tolerated) |
| Deleterious probability by DeFine | 0.6223 (Deleterious) |
| Entrez Gene ID | 5587 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PRKD1 (GeneCards) |
| Number of variants in PRKD1 in this database | 14 (view all the variants) |
| Full name | protein kinase D1 |
| Band | 14q12 |
| Other IDs | Vega: OTTHUMG00000140203 OMIM: 605435 HGNC: HGNC:9407 Ensembl: ENSG00000184304 |
| Other names | PKD, PKCM, CHDED, PRKCM, PKC-MU |
| Summary | The protein encoded by this gene is a serine/threonine protein kinase involved in many cellular processes, including Golgi body membrane integrity and transport, cell migration and differentiation, MAPK8/JNK1 and Ras pathway signaling, MAPK1/3 (ERK1/2) pathway signaling, cell survival, and regulation of cell shape and adhesion. [provided by RefSeq, Jan 2017] |
| Individual ID | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |