GeneBe

USP30-AS1

USP30 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:109051572-109054008

Links

ENSG00000256262 ∙ NCBI:100131733 ∙ ∙ HGNC:40909 ∙ ∙ ∙ 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 USP30-AS1 gene.

  • Inborn genetic diseases (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the USP30-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
3
clinvar
 3
Total 0 0 3 0 0

Variants in USP30-AS1

This is a list of pathogenic ClinVar variants found in the USP30-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
12-109052692-G-A not specified Uncertain significance (Oct 19, 2021)3187380
12-109052708-G-A not specified Uncertain significance (Apr 27, 2023)2519495
12-109052713-C-T not specified Uncertain significance (Nov 09, 2021)2211541
12-109052734-G-C not specified Uncertain significance (Oct 26, 2024)3466855
12-109052752-C-A not specified Uncertain significance (Nov 08, 2024)2210340

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP