GeneBe

GPR50-AS1

GPR50 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): X:151175175-151177836

Links

ENSG00000234696 ∙ NCBI:100128688 ∙ ∙ HGNC:40259 ∙ ∙ ∙ 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 GPR50-AS1 gene.

  • Inborn genetic diseases (6 variants)
  • not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR50-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
6
clinvar
1
clinvar
 7
Total 0 0 6 1 0

Variants in GPR50-AS1

This is a list of pathogenic ClinVar variants found in the GPR50-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
X-151176738-C-T not specified Uncertain significance (Jun 23, 2023)2603759
X-151176776-C-T not specified Uncertain significance (Sep 16, 2021)2250136
X-151176782-C-G not specified Uncertain significance (Dec 21, 2023)3101784
X-151176813-T-C not specified Uncertain significance (Feb 16, 2023)2457416
X-151176819-G-C not specified Uncertain significance (Jun 23, 2023)2594921
X-151176866-G-T not specified Uncertain significance (Mar 18, 2024)3282408
X-151176889-C-G not specified Uncertain significance (Mar 21, 2023)2527796
X-151176899-C-T Likely benign (Feb 01, 2023)1206241
X-151176900-G-A not specified Uncertain significance (Mar 17, 2023)2507601

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP