| Variant ID | 22628 |
|---|---|
| Entrez Gene ID | 5341 |
| Gene | PLEK (GeneCards) |
| Location | hg19 2:68596456-68596456
hg38 2:68369324-68369324 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000002.11:g.68596456 G>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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3759 |
| CADD Raw score (version 1.3) | 0.103353 (Deleterious) |
| FATHMM raw prediction score | 0.31212 (Tolerated) |
| Deleterious probability by DeFine | 0.5139 (Deleterious) |
| 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 | 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; |