| Variant ID | 34011 |
|---|---|
| Entrez Gene ID | 338 |
| Gene | APOB (GeneCards) |
| Location | hg19 2:21229039-21229039
hg38 2:21006167-21006167 |
| Disease | Asymptomatic |
| Method | NGS gene panel |
| Mutation(HGVS format) | NC_000002.11:g.21229039 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 3567 |
| Amino acid changes in protein | T > T |
| Position in cDNA | 10701 |
| Changes in cDNA | G > A |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0.0201 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs12713558 |
| EIGEN score | -0.3045 |
| CADD Raw score (version 1.3) | 0.117309 (Deleterious) |
| FATHMM raw prediction score | 0.31849 (Tolerated) |
| Deleterious probability by DeFine | 0.8483 (Deleterious) |
| 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 | 25999502.04 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 25999502 |
| Whose mosaic mutation | Normal |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 25999502 |
|---|---|
| Title | High burden and pervasive positive selection of somatic mutations in normal human skin |
| Journal | Science |
| Publication date | 2015.05 |
| Disease | Asymptomatic |
| Number of cases | Male cases: 1; Female cases: 3; |