| Variant ID | 12597 |
|---|---|
| Entrez Gene ID | 5157 |
| Gene | PDGFRL (GeneCards) |
| Location | hg19 8:17448238-17448238
hg38 8:17590729-17590729 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.17448238 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 | -0.6159 |
| CADD Raw score (version 1.3) | -0.574527 (Deleterious) |
| FATHMM raw prediction score | 0.08618 (Tolerated) |
| Deleterious probability by DeFine | 0.4702 (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 | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |