ARGLU1-DT

Basic information

Region (hg38): 13:106567330-106716679

Links

ENSG00000272274 ∙ ∙ ∙ HGNC:43691 ∙ ∙ ∙ 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 ARGLU1-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARGLU1-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 ARGLU1-DT

This is a list of pathogenic ClinVar variants found in the ARGLU1-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
13-106567693-G-A		not specified	Uncertain significance (Apr 20, 2024)
13-106567707-G-C		not specified	Uncertain significance (Aug 02, 2021)
13-106567723-G-T		not specified	Uncertain significance (May 24, 2024)
13-106567726-A-C		not specified	Uncertain significance (Feb 14, 2024)
13-106567733-T-G		not specified	Uncertain significance (Dec 01, 2022)
13-106567748-A-C		not specified	Uncertain significance (Nov 15, 2021)
13-106567821-G-C		not specified	Uncertain significance (Sep 13, 2023)
13-106567872-C-T		ARGLU1-related disorder	Likely benign (Mar 25, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP