PRADX

PRC2 and DDX5 associated lncRNA, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 11:1760348-1762486

Links

ENSG00000235027 ∙ ∙ ∙ HGNC:40168 ∙ ∙ ∙ 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 PRADX gene.

• Neuronal ceroid lipofuscinosis (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRADX 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			1	1		2
non coding	3	3	40	44	3	93
Total	3	3	40	44	3

Highest pathogenic variant AF is 0.00000657

Variants in PRADX

This is a list of pathogenic ClinVar variants found in the PRADX region.

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

Position	Type	Phenotype	Significance	ClinVar
11-1761176-G-C			Benign (Jun 26, 2018)
11-1761290-G-T		Neuronal ceroid lipofuscinosis	Likely benign (Sep 07, 2022)
11-1761291-C-A		not specified • Neuronal ceroid lipofuscinosis	Benign/Likely benign (Jan 29, 2024)
11-1761292-T-C		Neuronal ceroid lipofuscinosis	Likely benign (Jun 01, 2022)
11-1761295-G-T		Neuronal ceroid lipofuscinosis	Likely benign (Aug 03, 2023)
11-1761301-A-G		Neuronal ceroid lipofuscinosis	Likely benign (Dec 22, 2023)
11-1761302-T-A		Neuronal ceroid lipofuscinosis	Likely benign (May 12, 2022)
11-1761308-C-A		Neuronal ceroid lipofuscinosis	Likely pathogenic (Sep 02, 2022)
11-1761308-C-T		Neuronal ceroid lipofuscinosis	Likely pathogenic (Mar 08, 2023)
11-1761309-G-A		not specified • Neuronal ceroid lipofuscinosis	Conflicting classifications of pathogenicity (Feb 23, 2024)
11-1761314-T-C		Neuronal ceroid lipofuscinosis	Uncertain significance (Dec 11, 2021)
11-1761321-C-T		not specified • Neuronal ceroid lipofuscinosis • Inborn genetic diseases	Benign/Likely benign (Jan 11, 2025)
11-1761322-T-C		Neuronal ceroid lipofuscinosis	Uncertain significance (Aug 16, 2022)
11-1761326-G-A		Neuronal ceroid lipofuscinosis	Uncertain significance (Nov 01, 2022)
11-1761330-C-T		Neuronal ceroid lipofuscinosis	Likely benign (Apr 12, 2023)
11-1761332-C-T		not specified	Uncertain significance (Sep 06, 2024)
11-1761333-G-A		Neuronal ceroid lipofuscinosis • CTSD-related disorder	Likely benign (Dec 13, 2023)
11-1761333-G-C		Neuronal ceroid lipofuscinosis	Likely benign (Mar 23, 2023)
11-1761334-G-A		Neuronal ceroid lipofuscinosis	Uncertain significance (Dec 22, 2019)
11-1761338-T-G		Neuronal ceroid lipofuscinosis	Uncertain significance (Aug 24, 2021)
11-1761342-C-A		Neuronal ceroid lipofuscinosis	Likely benign (Aug 17, 2023)
11-1761345-C-T		Neuronal ceroid lipofuscinosis	Likely benign (Jun 16, 2023)
11-1761347-C-A		Neuronal ceroid lipofuscinosis	Pathogenic (Dec 09, 2023)
11-1761347-C-G		Neuronal ceroid lipofuscinosis	Uncertain significance (Aug 27, 2021)
11-1761347-C-T		Neuronal ceroid lipofuscinosis	Uncertain significance (Jun 24, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP