| Variant ID | 29797 |
|---|---|
| Entrez Gene ID | 4018 |
| Gene | LPA (GeneCards) |
| Location | hg19 6:160998168-160998168
hg38 6:160577136-160577136 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000006.11:g.160998168 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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) | 0.00006462 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3023804 |
| Variant occurences in COSMIC | 3(oesophagus)|2(large_intestine) |
| EIGEN score | 0.0148 |
| CADD Raw score (version 1.3) | 3.828545 (Deleterious) |
| FATHMM raw prediction score | 0.91703 (Tolerated) |
| SIFT score | 0.109 (Tolerated) |
| MutationTaster score | 0.999 (Tolerated) |
| MutatioinAssessor score | 2.205 (Deleterious) |
| PROVEAN score | -1.53 (Tolerated) |
| MetaSVM score | -0.835 (Tolerated) |
| MetaLR score | 0.27 (Tolerated) |
| MCAP score | 0.01 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.62 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.898 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.075 |
| Deleterious probability by iFish2 | 0.0495 (Neutral) |
| Deleterious probability by DeFine | 0.7026 (Deleterious) |
| 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 | 28867142.40 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |