| Variant ID | 20669 |
|---|---|
| Entrez Gene ID | 114876 |
| Gene | OSBPL1A (GeneCards) |
| Location | hg19 18:21828727-21828727
hg38 18:24248763-24248763 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.21828727 A>T (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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0209 |
| CADD Raw score (version 1.3) | 0.00904 (Deleterious) |
| FATHMM raw prediction score | 0.14156 (Tolerated) |
| Deleterious probability by DeFine | 0.2396 (Neutral) |
| Entrez Gene ID | 114876 (NCBI Gene) |
|---|---|
| Official Gene Symbol | OSBPL1A (GeneCards) |
| Number of variants in OSBPL1A in this database | 4 (view all the variants) |
| Full name | oxysterol binding protein like 1A |
| Band | 18q11.2 |
| Other IDs | Vega: OTTHUMG00000131944 OMIM: 606730 HGNC: HGNC:16398 Ensembl: ENSG00000141447 |
| Other names | ORP1, ORP-1, OSBPL1B |
| Summary | This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. Transcript variants derived from alternative promoter usage and/or alternative splicing exist; they encode different isoforms. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |