GeneBe

PXN-AS1

PXN antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:120201260-120213401

Links

ENSG00000255857 ∙ NCBI:100506649 ∙ ∙ HGNC:44123 ∙ ∙ ∙ 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 PXN-AS1 gene.

  • Inborn genetic diseases (2 variants)
  • not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PXN-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
2
clinvar
1
clinvar
 3
Total 0 0 2 0 1

Variants in PXN-AS1

This is a list of pathogenic ClinVar variants found in the PXN-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
12-120212466-T-C not specified Uncertain significance (Mar 01, 2024)3150133
12-120212468-G-A not specified Uncertain significance (Aug 02, 2021)2240205
12-120212483-G-A not specified Uncertain significance (Mar 02, 2023)2461825
12-120212569-C-T Benign (Jun 28, 2018)715656
12-120212570-G-A not specified Uncertain significance (Mar 31, 2024)3311844

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP