| Variant ID | 1422 |
|---|---|
| Entrez Gene ID | 53353 |
| Gene | LRP1B (GeneCards) |
| Location | hg19 2:141291600-141291600
hg38 2:140534031-140534031 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000002.11:g.141291600_141291600 del (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 | NM_018557.2 |
| mRNA length | 16557 |
| Reference length | 243199373 |
| Deleterious probability by DeFine | 0.8431 (Deleterious) |
|---|
| 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 | 28867142.31 (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; |