| Variant ID | 12621 |
|---|---|
| Entrez Gene ID | 4023 |
| Gene | LPL (GeneCards) |
| Location | hg19 8:19815031-19815031
hg38 8:19957520-19957520 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.19815031 A>T (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 | -0.2493 |
| CADD Raw score (version 1.3) | -0.189927 (Deleterious) |
| FATHMM raw prediction score | 0.08954 (Tolerated) |
| Deleterious probability by DeFine | 0.4367 (Neutral) |
| Entrez Gene ID | 4023 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LPL (GeneCards) |
| Number of variants in LPL in this database | 4 (view all the variants) |
| Full name | lipoprotein lipase |
| Band | 8p21.3 |
| Other IDs | Vega: OTTHUMG00000036645 OMIM: 609708 HGNC: HGNC:6677 Ensembl: ENSG00000175445 |
| Other names | LIPD, HDLCQ11 |
| Summary | LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.17 (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; |