| Variant ID | 26569 |
|---|---|
| Entrez Gene ID | 5157 |
| Gene | PDGFRL (GeneCards) |
| Location | hg19 8:17459402-17459402
hg38 8:17601893-17601893 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000008.10:g.17459402 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5694 |
| CADD Raw score (version 1.3) | -0.314899 (Deleterious) |
| FATHMM raw prediction score | 0.07831 (Tolerated) |
| Deleterious probability by DeFine | 0.11 (Neutral) |
| Entrez Gene ID | 5157 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PDGFRL (GeneCards) |
| Number of variants in PDGFRL in this database | 5 (view all the variants) |
| Full name | platelet derived growth factor receptor like |
| Band | 8p22 |
| Other IDs | Vega: OTTHUMG00000130818 OMIM: 604584 HGNC: HGNC:8805 Ensembl: ENSG00000104213 |
| Other names | PDGRL, PRLTS |
| Summary | This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segment containing this gene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non-small cell lung cancers. This suggests this gene product may function as a tumor suppressor. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |