| Variant ID | 15875 |
|---|---|
| Entrez Gene ID | 390191 |
| Gene | OR5B12 (GeneCards) |
| Location | hg19 11:58213653-58213653
hg38 11:58446180-58446180 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.58213653 C>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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3282 |
| CADD Raw score (version 1.3) | 0.005321 (Deleterious) |
| FATHMM raw prediction score | 0.07536 (Tolerated) |
| Deleterious probability by DeFine | 0.0892 (Neutral) |
| Entrez Gene ID | 390191 (NCBI Gene) |
|---|---|
| Official Gene Symbol | OR5B12 (GeneCards) |
| Number of variants in OR5B12 in this database | 1 (view all the variants) |
| Full name | olfactory receptor family 5 subfamily B member 12 |
| Band | 11q12.1 |
| Other IDs | Vega: OTTHUMG00000167543 HGNC: HGNC:15432 Ensembl: ENSG00000172362 |
| Other names | OR5B16, OST743, OR5B12P, OR11-241 |
| Summary | Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.19 (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; |