| Variant ID | 25671 |
|---|---|
| Entrez Gene ID | 10692 |
| Gene | RRH (GeneCards) |
| Location | hg19 4:110765608-110765608
hg38 4:109844452-109844452 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000004.11:g.110765608 C>A (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1096 |
| CADD Raw score (version 1.3) | 0.066533 (Deleterious) |
| FATHMM raw prediction score | 0.12502 (Tolerated) |
| Deleterious probability by DeFine | 0.3911 (Neutral) |
| Entrez Gene ID | 10692 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RRH (GeneCards) |
| Number of variants in RRH in this database | 3 (view all the variants) |
| Full name | retinal pigment epithelium-derived rhodopsin homolog |
| Band | 4q25 |
| Other IDs | Vega: OTTHUMG00000132045 OMIM: 605224 HGNC: HGNC:10450 Ensembl: ENSG00000180245 |
| Other names | None |
| Summary | Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes opsin 5 and retinal G protein coupled receptor. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |