| Variant ID | 3353 |
|---|---|
| Entrez Gene ID | 53353 |
| Gene | LRP1B (GeneCards) |
| Location | hg19 2:142025780-142025780
hg38 2:141268211-141268211 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.142025780 T>C (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 | -0.2775 |
| CADD Raw score (version 1.3) | -0.334769 (Deleterious) |
| FATHMM raw prediction score | 0.12266 (Tolerated) |
| Deleterious probability by DeFine | 0.282 (Neutral) |
| Entrez Gene ID | 53353 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LRP1B (GeneCards) |
| Number of variants in LRP1B in this database | 23 (view all the variants) |
| Full name | LDL receptor related protein 1B |
| Band | 2q22.1-q22.2 |
| Other IDs | Vega: OTTHUMG00000131799 OMIM: 608766 HGNC: HGNC:6693 Ensembl: ENSG00000168702 |
| Other names | LRP-1B, LRPDIT, LRP-DIT |
| Summary | This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016] |
| Individual ID | 29217584.08 (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; |