Overview

Variant ID 7103
Entrez Gene ID 10692
Gene RRH (GeneCards)
Location hg19 4:110757883-110757883
hg38 4:109836727-109836727
Disease Cockayne syndrome (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000004.11:g.110757883 A>T (Genome Assembly: GRCh37)

Other information

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

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 0.0935
CADD Raw score (version 1.3) 0.514816 (Deleterious)
FATHMM raw prediction score 0.12579 (Tolerated)
Deleterious probability by DeFine 0.5717 (Deleterious)
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 #1

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

Publication #1: 29217584

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;