| Variant ID | 2918 |
|---|---|
| Entrez Gene ID | 338 |
| Gene | APOB (GeneCards) |
| Location | hg19 2:21295580-21295580
hg38 2:21072708-21072708 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.21295580 C>A (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1608 |
| CADD Raw score (version 1.3) | 0.409889 (Deleterious) |
| FATHMM raw prediction score | 0.11707 (Tolerated) |
| Deleterious probability by DeFine | 0.0681 (Neutral) |
| Entrez Gene ID | 338 (NCBI Gene) |
|---|---|
| Official Gene Symbol | APOB (GeneCards) |
| Number of variants in APOB in this database | 138 (view all the variants) |
| Full name | apolipoprotein B |
| Band | 2p24.1 |
| Other IDs | Vega: OTTHUMG00000090785 OMIM: 107730 HGNC: HGNC:603 Ensembl: ENSG00000084674 |
| Other names | FLDB, LDLCQ4, apoB-48, apoB-100 |
| Summary | This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |