UVRAG-DT

UVRAG divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 11:75794032-75815406

Links

ENSG00000293621 ∙ NCBI:100506113 ∙ ∙ HGNC:53952 ∙ ∙ ∙ 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 UVRAG-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UVRAG-DT 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 UVRAG-DT

This is a list of pathogenic ClinVar variants found in the UVRAG-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
11-75796329-T-C		not specified	Uncertain significance (Dec 10, 2024)
11-75796344-A-G		not specified	Uncertain significance (Mar 10, 2025)
11-75796353-C-T		not specified	Uncertain significance (Aug 28, 2024)
11-75796495-C-A		not specified	Uncertain significance (Jun 26, 2024)
11-75797175-C-T			Uncertain significance (Mar 18, 2024)
11-75797190-T-C			Uncertain significance (Apr 21, 2016)
11-75797213-T-C			Benign/Likely benign (Jun 01, 2024)
11-75797228-C-G		not specified	Uncertain significance (Apr 12, 2022)
11-75797232-G-A		not specified	Uncertain significance (Nov 26, 2024)
11-75797242-G-A		not specified	Uncertain significance (Sep 10, 2024)
11-75797266-T-G		not specified	Uncertain significance (Apr 08, 2024)
11-75797272-G-A			Benign (Feb 01, 2024)
11-75797298-C-T			Uncertain significance (May 27, 2022)
11-75797302-A-G		not specified	Uncertain significance (Nov 14, 2024)
11-75797325-C-T		not specified	Uncertain significance (Nov 09, 2024)
11-75798246-T-C		not specified	Uncertain significance (Aug 02, 2022)
11-75798272-C-A			Benign (Jul 01, 2022)
11-75798300-T-C		not specified	Uncertain significance (May 13, 2024)
11-75798306-C-T			Uncertain significance (Jun 01, 2022)
11-75798307-G-A			Likely benign (May 01, 2024)
11-75798318-A-G		not specified	Uncertain significance (Oct 05, 2023)
11-75798319-A-G		not specified	Uncertain significance (Jun 18, 2021)
11-75798331-A-G		not specified	Uncertain significance (Feb 08, 2025)
11-75798354-A-G		not specified	Uncertain significance (Nov 21, 2022)
11-75798369-G-A			Likely benign (May 01, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP