| Variant ID | 23339 |
|---|---|
| Entrez Gene ID | 4023 |
| Gene | LPL (GeneCards) |
| Location | hg19 8:19940548-19940548
hg38 8:20083037-20083037 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000008.10:g.19940548 C>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 | -0.3075 |
| CADD Raw score (version 1.3) | -0.058681 (Deleterious) |
| FATHMM raw prediction score | 0.07973 (Tolerated) |
| Deleterious probability by DeFine | 0.2094 (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 | 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; |