OR8D2
Basic information
Region (hg38): 11:124319262-124320197
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 OR8D2 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 | 1 | |||||
missense | 25 | 26 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 25 | 2 | 0 |
Variants in OR8D2
This is a list of pathogenic ClinVar variants found in the OR8D2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
11-124319311-T-C | not specified | Uncertain significance (Apr 06, 2023) | ||
11-124319347-A-C | not specified | Uncertain significance (Jun 24, 2022) | ||
11-124319424-C-T | not specified | Uncertain significance (Jul 25, 2023) | ||
11-124319434-A-G | not specified | Uncertain significance (Apr 20, 2023) | ||
11-124319435-T-C | not specified | Uncertain significance (Apr 25, 2023) | ||
11-124319452-C-G | not specified | Uncertain significance (Jan 11, 2023) | ||
11-124319461-A-G | not specified | Uncertain significance (Dec 22, 2023) | ||
11-124319473-C-A | not specified | Uncertain significance (May 30, 2022) | ||
11-124319523-G-T | Likely benign (Feb 01, 2023) | |||
11-124319603-G-T | not specified | Uncertain significance (May 23, 2023) | ||
11-124319641-G-C | not specified | Uncertain significance (Jul 16, 2021) | ||
11-124319675-T-A | not specified | Uncertain significance (Mar 29, 2023) | ||
11-124319680-G-A | not specified | Uncertain significance (Feb 15, 2023) | ||
11-124319705-C-T | not specified | Likely benign (Jun 01, 2022) | ||
11-124319789-A-T | not specified | Uncertain significance (Aug 04, 2021) | ||
11-124319822-T-C | not specified | Uncertain significance (Dec 05, 2022) | ||
11-124319836-T-G | not specified | Uncertain significance (Jun 10, 2024) | ||
11-124319863-C-T | not specified | Uncertain significance (Apr 12, 2024) | ||
11-124319906-T-C | not specified | Uncertain significance (Mar 21, 2023) | ||
11-124319958-C-G | not specified | Uncertain significance (Feb 05, 2024) | ||
11-124319974-G-T | not specified | Uncertain significance (Jul 05, 2022) | ||
11-124319987-G-A | not specified | Uncertain significance (Aug 04, 2023) | ||
11-124320004-T-C | not specified | Uncertain significance (Jun 23, 2023) | ||
11-124320047-G-A | not specified | Uncertain significance (May 09, 2023) | ||
11-124320092-C-T | not specified | Uncertain significance (Dec 17, 2023) |
GnomAD
Source:
dbNSFP
Source:
- Function
- FUNCTION: Odorant receptor (Potential). May be involved in taste perception. {ECO:0000305}.;
- Pathway
- Olfactory transduction - Homo sapiens (human);GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;GPCR downstream signalling
(Consensus)
Intolerance Scores
- loftool
- 0.426
- rvis_EVS
- 0.62
- rvis_percentile_EVS
- 83.25
Haploinsufficiency Scores
- pHI
- 0.0577
- hipred
- N
- hipred_score
- 0.203
- ghis
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0274
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | Medium | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Olfr926
- Phenotype
Gene ontology
- Biological process
- G protein-coupled receptor signaling pathway;sensory perception of smell;detection of chemical stimulus involved in sensory perception of smell
- Cellular component
- plasma membrane;integral component of membrane
- Molecular function
- G protein-coupled receptor activity;olfactory receptor activity;odorant binding