RRH
Basic information
Region (hg38): 4:109827971-109849123
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RRH gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 16 | 18 | ||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 12 | 10 | 22 | |||
Total | 0 | 0 | 28 | 13 | 0 |
Variants in RRH
This is a list of pathogenic ClinVar variants found in the RRH region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
4-109828059-A-G | not specified | Uncertain significance (Jul 06, 2021) | ||
4-109828076-G-A | not specified | Uncertain significance (Jan 30, 2024) | ||
4-109828107-T-C | not specified | Uncertain significance (Jun 04, 2024) | ||
4-109833273-A-C | not specified | Uncertain significance (Nov 17, 2023) | ||
4-109833285-T-G | not specified | Uncertain significance (May 18, 2023) | ||
4-109833313-G-T | not specified | Uncertain significance (Dec 27, 2023) | ||
4-109835462-G-A | not specified | Likely benign (Apr 28, 2022) | ||
4-109835463-T-G | not specified | Uncertain significance (Mar 20, 2023) | ||
4-109836013-G-A | not specified | Uncertain significance (Apr 04, 2024) | ||
4-109836032-C-A | Likely benign (Dec 31, 2019) | |||
4-109836049-G-C | not specified | Uncertain significance (Jan 27, 2022) | ||
4-109836061-A-G | not specified | Uncertain significance (Jan 18, 2023) | ||
4-109836120-A-G | not specified | Uncertain significance (Feb 26, 2024) | ||
4-109836148-G-A | not specified | Uncertain significance (Sep 13, 2023) | ||
4-109837469-C-T | not specified | Likely benign (Mar 22, 2023) | ||
4-109837553-A-G | not specified | Uncertain significance (May 29, 2024) | ||
4-109842479-T-G | not specified | Uncertain significance (Sep 22, 2022) | ||
4-109842571-A-G | not specified | Uncertain significance (Dec 20, 2023) | ||
4-109842605-C-G | not specified | Uncertain significance (Sep 17, 2021) | ||
4-109842614-A-G | not specified | Uncertain significance (Dec 16, 2023) | ||
4-109844103-C-A | not specified | Uncertain significance (May 10, 2022) | ||
4-109844132-A-G | not specified | Uncertain significance (Jul 28, 2021) | ||
4-109848188-C-G | Congenital Stationary Night Blindness, Recessive | Likely benign (Jun 14, 2016) | ||
4-109848202-A-G | Uncertain significance (Sep 09, 2022) | |||
4-109848204-G-A | Uncertain significance (Feb 02, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
RRH | protein_coding | protein_coding | ENST00000317735 | 7 | 16611 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
2.07e-9 | 0.138 | 125516 | 1 | 231 | 125748 | 0.000923 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.103 | 193 | 189 | 1.02 | 0.00000936 | 2227 |
Missense in Polyphen | 68 | 68.18 | 0.99736 | 815 | ||
Synonymous | 0.431 | 61 | 65.4 | 0.932 | 0.00000357 | 648 |
Loss of Function | 0.268 | 14 | 15.1 | 0.926 | 7.27e-7 | 178 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00753 | 0.00755 |
Ashkenazi Jewish | 0.000695 | 0.000695 |
East Asian | 0.000109 | 0.000109 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000554 | 0.000545 |
Middle Eastern | 0.000109 | 0.000109 |
South Asian | 0.000425 | 0.000425 |
Other | 0.000978 | 0.000978 |
dbNSFP
Source:
- Function
- FUNCTION: May play a role in rpe physiology either by detecting light directly or by monitoring the concentration of retinoids or other photoreceptor-derived compounds.;
- Pathway
- GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Opsins;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.129
Intolerance Scores
- loftool
- 0.731
- rvis_EVS
- 0.51
- rvis_percentile_EVS
- 80.1
Haploinsufficiency Scores
- pHI
- 0.224
- hipred
- N
- hipred_score
- 0.284
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.415
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rrh
- Phenotype
Gene ontology
- Biological process
- G protein-coupled receptor signaling pathway;visual perception;phototransduction;detection of visible light;protein-chromophore linkage;cellular response to light stimulus
- Cellular component
- photoreceptor outer segment;integral component of plasma membrane
- Molecular function
- G protein-coupled receptor activity;G protein-coupled photoreceptor activity