GeneBe

RNU4-1

RNA, U4 small nuclear 1, the group of Small nuclear RNAs|U4/U6 small nuclear ribonucleoprotein

Basic information

Region (hg38): 12:120293097-120293237

Previous symbols: [ "RNU4B2", "RNU4A" ]

Links

ENSG00000200795 ∙ NCBI:26835 ∙ ∙ HGNC:10192 ∙ ∙ ∙ 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 RNU4-1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNU4-1 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
0
Total 0 0 0 0 0

Variants in RNU4-1

This is a list of pathogenic ClinVar variants found in the RNU4-1 region.

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

Position Type Phenotype Significance ClinVar
12-120293142-A-C RNU4-1-associated neurodevelopmental disorder Uncertain significance (Oct 09, 2024)3362398

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Pathway
RNA polymerase II transcribes snRNA genes;Gene expression (Transcription);RNA polymerase II transcribes snRNA genes;RNA Polymerase II Transcription (Consensus)