GeneBe

OR2A1-AS1

OR2A1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 7:144250042-144356219

Links

ENSG00000244479 ∙ NCBI:101928492 ∙ ∙ HGNC:49168 ∙ ∙ ∙ 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 OR2A1-AS1 gene.

  • Inborn genetic diseases (9 variants)
  • not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR2A1-AS1 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
0
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
8
clinvar
2
clinvar
 10
Total 0 0 8 2 0

Variants in OR2A1-AS1

This is a list of pathogenic ClinVar variants found in the OR2A1-AS1 region.

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

Position Type Phenotype Significance ClinVar
7-144258770-G-A not specified Uncertain significance (Apr 12, 2024)3302642
7-144258820-T-C not specified Uncertain significance (Mar 21, 2023)2524355
7-144258823-T-C not specified Uncertain significance (Aug 04, 2023)2616128
7-144258824-G-T not specified Uncertain significance (Aug 04, 2023)2616127
7-144258878-A-G not specified Uncertain significance (Mar 20, 2024)3302640
7-144258886-C-A not specified Uncertain significance (Feb 16, 2023)2485702
7-144258965-A-T not specified Uncertain significance (Oct 06, 2022)2412511
7-144259047-A-C not specified Uncertain significance (Nov 17, 2023)3205023
7-144259081-A-G not specified Uncertain significance (Nov 29, 2023)3205022
7-144259175-C-T not specified Uncertain significance (Apr 25, 2023)2540681
7-144259246-G-T not specified Uncertain significance (May 09, 2022)2389525
7-144259336-A-G not specified Likely benign (Mar 23, 2022)3205021
7-144259372-T-A not specified Uncertain significance (Mar 07, 2023)2468588
7-144259391-T-G not specified Uncertain significance (Feb 05, 2024)3205020
7-144259393-C-T not specified Likely benign (Jul 05, 2023)2597612
7-144259394-G-A not specified Uncertain significance (Mar 30, 2024)3302641
7-144259414-T-C not specified Uncertain significance (Feb 21, 2024)3205019
7-144259474-G-C not specified Uncertain significance (Jan 27, 2022)3205018
7-144259489-A-T not specified Uncertain significance (Feb 26, 2024)3205017
7-144259615-A-G not specified Uncertain significance (Dec 19, 2022)2337208
7-144318141-C-G not specified Uncertain significance (May 11, 2022)2289300
7-144318164-C-T Likely benign (Mar 01, 2022)2658125
7-144318179-G-A not specified Uncertain significance (Nov 16, 2021)2261855
7-144318234-C-A not specified Uncertain significance (Nov 09, 2022)2324607
7-144318263-C-G not specified Uncertain significance (Jul 21, 2021)2365770

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP