| Variant ID | 991 |
|---|---|
| Entrez Gene ID | 26341 |
| Gene | OR5H1 (GeneCards) |
| Location | hg19 3:97852360-97852360
hg38 3:98133516-98133516 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000003.11:g.97852360 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 273 |
| Amino acid changes in protein | V > V |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0351 |
| CADD Raw score (version 1.3) | -0.368551 (Deleterious) |
| FATHMM raw prediction score | 0.15176 (Tolerated) |
| Deleterious probability by DeFine | 0.3773 (Neutral) |
| Entrez Gene ID | 26341 (NCBI Gene) |
|---|---|
| Official Gene Symbol | OR5H1 (GeneCards) |
| Number of variants in OR5H1 in this database | 1 (view all the variants) |
| Full name | olfactory receptor family 5 subfamily H member 1 |
| Band | 3q11.2 |
| Other IDs | Vega: OTTHUMG00000160070 HGNC: HGNC:8346 Ensembl: ENSG00000231192 |
| Other names | HTPCRX14, HSHTPCRX14 |
| 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 | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |