| Variant ID | 18034 |
|---|---|
| Entrez Gene ID | 5587 |
| Gene | PRKD1 (GeneCards) |
| Location | hg19 14:30341371-30341371
hg38 14:29872165-29872165 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.30341371 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 | -0.0471 |
| CADD Raw score (version 1.3) | 0.004974 (Deleterious) |
| FATHMM raw prediction score | 0.11163 (Tolerated) |
| Deleterious probability by DeFine | 0.4818 (Neutral) |
| 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 | 29217584.03 (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; |