| Variant ID | 2944 |
|---|---|
| Entrez Gene ID | 5341 |
| Gene | PLEK (GeneCards) |
| Location | hg19 2:68601348-68601348
hg38 2:68374216-68374216 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.68601348 A>G (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003231 |
|---|---|
| EIGEN score | -0.4596 |
| CADD Raw score (version 1.3) | -0.04146 (Deleterious) |
| FATHMM raw prediction score | 0.12585 (Tolerated) |
| Deleterious probability by DeFine | 0.215 (Neutral) |
| Entrez Gene ID | 5341 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PLEK (GeneCards) |
| Number of variants in PLEK in this database | 2 (view all the variants) |
| Full name | pleckstrin |
| Band | 2p14 |
| Other IDs | Vega: OTTHUMG00000129562 OMIM: 173570 HGNC: HGNC:9070 Ensembl: ENSG00000115956 |
| Other names | P47 |
| Summary | None |
| 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; |