DLG3-AS1

DLG3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): X:70452956-70456077

Links

ENSG00000231651 ∙ NCBI:100873930 ∙ ∙ HGNC:40182 ∙ ∙ ∙ 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 DLG3-AS1 gene.

• not provided (12 variants)
• not specified (5 variants)
• Intellectual disability, X-linked 90 (4 variants)
• Inborn genetic diseases (2 variants)
• Intellectual disability (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DLG3-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	4		9	3	4	20
Total	4	0	9	3	4

Variants in DLG3-AS1

This is a list of pathogenic ClinVar variants found in the DLG3-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
X-70453614-C-T			Benign (Jun 19, 2021)
X-70453634-C-A			Uncertain significance (Oct 03, 2019)
X-70453646-C-T		Inborn genetic diseases	Likely benign (May 02, 2018)
X-70453663-A-G		not specified	Uncertain significance (Mar 22, 2017)
X-70453704-G-T			Uncertain significance (Jun 09, 2022)
X-70453733-C-T		not specified	Uncertain significance (Nov 26, 2014)
X-70453771-G-A		Intellectual disability, X-linked 90	Uncertain significance (Sep 13, 2022)
X-70453772-C-T		not specified	Likely benign (Jun 01, 2022)
X-70453782-C-T			Uncertain significance (Jan 05, 2023)
X-70453793-G-A		Intellectual disability, X-linked 90	Uncertain significance (Jan 07, 2024)
X-70453794-G-A		Intellectual disability, X-linked 90	Pathogenic (Aug 01, 2004)
X-70453961-T-C			Benign (Jun 18, 2021)
X-70454052-T-G			Benign (Jun 18, 2021)
X-70454271-C-T		Inborn genetic diseases	Uncertain significance (Mar 07, 2024)
X-70454278-GC-G			Pathogenic (Oct 23, 2020)
X-70454279-CCAGT-C		Intellectual disability	Pathogenic (Feb 13, 2019)
X-70454284-C-G		Intellectual disability, X-linked 90	Pathogenic (Aug 01, 2004)
X-70454299-C-T		not specified	Likely benign (Oct 20, 2015)
X-70454316-G-A			Uncertain significance (Jun 12, 2017)
X-70454318-TAGG-T		not specified • Inborn genetic diseases • DLG3-related disorder	Conflicting classifications of pathogenicity (Oct 17, 2018)
X-70454321-G-C			Uncertain significance (Jul 26, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP