OR51B5

olfactory receptor family 51 subfamily B member 5, the group of Olfactory receptors, family 51

Basic information

Region (hg38): 11:5303443-5505652

Links

ENSG00000167355 ∙ NCBI:282763 ∙ ∙ HGNC:19599 ∙ Uniprot:Q9H339 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OR51B5 gene.

• Inborn genetic diseases (114 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR51B5 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			18	1		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			86	12	1	99
Total	0	0	104	13	1

Variants in OR51B5

This is a list of pathogenic ClinVar variants found in the OR51B5 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-5323376-G-A		not specified	Uncertain significance (Jan 10, 2022)
11-5323394-T-A		not specified	Uncertain significance (Jan 03, 2024)
11-5323454-G-C		not specified	Uncertain significance (Dec 26, 2023)
11-5323616-A-G		not specified	Uncertain significance (Nov 27, 2023)
11-5323618-G-A		not specified	Uncertain significance (Mar 01, 2023)
11-5323709-G-C		not specified	Uncertain significance (Aug 08, 2022)
11-5323825-A-C		not specified	Uncertain significance (Jan 10, 2023)
11-5323848-A-G			Benign (Apr 16, 2018)
11-5323862-C-G		not specified	Uncertain significance (Feb 28, 2024)
11-5323876-G-A		not specified	Uncertain significance (Feb 10, 2022)
11-5323879-A-C		not specified	Uncertain significance (May 18, 2022)
11-5323901-T-C		not specified	Uncertain significance (Jul 20, 2021)
11-5323925-G-A		not specified	Likely benign (Oct 18, 2021)
11-5323950-C-A		not specified	Uncertain significance (Jan 25, 2023)
11-5323967-C-A		not specified	Uncertain significance (Jun 29, 2023)
11-5323975-A-G		not specified	Uncertain significance (Aug 16, 2022)
11-5324028-A-C		not specified	Uncertain significance (Aug 13, 2021)
11-5324053-A-T		not specified	Uncertain significance (Oct 03, 2022)
11-5324065-G-C		not specified	Uncertain significance (Feb 06, 2024)
11-5324245-A-G		not specified	Uncertain significance (Nov 15, 2023)
11-5324294-A-C			Benign (Apr 16, 2018)
11-5342621-G-C		not specified	Uncertain significance (Oct 17, 2023)
11-5342696-C-T		not specified	Uncertain significance (Sep 13, 2023)
11-5342764-A-G		not specified	Uncertain significance (Jul 06, 2021)
11-5342818-A-G		not specified	Uncertain significance (Nov 19, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP