| Variant ID | 26278 |
|---|---|
| Entrez Gene ID | 4018 |
| Gene | LPA (GeneCards) |
| Location | hg19 6:161076794-161076794
hg38 6:160655762-160655762 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000006.11:g.161076794 G>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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0828 |
| CADD Raw score (version 1.3) | 0.493383 (Deleterious) |
| FATHMM raw prediction score | 0.23085 (Tolerated) |
| Deleterious probability by DeFine | 0.0671 (Neutral) |
| Entrez Gene ID | 4018 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LPA (GeneCards) |
| Number of variants in LPA in this database | 5 (view all the variants) |
| Full name | lipoprotein(a) |
| Band | 6q25.3-q26 |
| Other IDs | Vega: OTTHUMG00000015956 OMIM: 152200 HGNC: HGNC:6667 Ensembl: ENSG00000198670 |
| Other names | LP, AK38, APOA |
| Summary | The protein encoded by this gene is a serine proteinase that inhibits the activity of tissue-type plasminogen activator I. The encoded protein constitutes a substantial portion of lipoprotein(a) and is proteolytically cleaved, resulting in fragments that attach to atherosclerotic lesions and promote thrombogenesis. Elevated plasma levels of this protein are linked to atherosclerosis. Depending on the individual, the encoded protein contains 2-43 copies of kringle-type domains. The allele represented here contains 15 copies of the kringle-type repeats and corresponds to that found in the reference genome sequence. [provided by RefSeq, Dec 2009] |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |