DLGAP1-AS3

DLGAP1 antisense RNA 3, the group of Antisense RNAs

Basic information

Region (hg38): 18:3878058-3897069

Links

ENSG00000263724 ∙ NCBI:201477 ∙ ∙ HGNC:27317 ∙ ∙ ∙ 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 DLGAP1-AS3 gene.

• Inborn genetic diseases (13 variants)
• not provided (3 variants)
• Developmental disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DLGAP1-AS3 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			14	1	2	17
Total	0	0	14	1	2

Variants in DLGAP1-AS3

This is a list of pathogenic ClinVar variants found in the DLGAP1-AS3 region.

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

Position	Type	Phenotype	Significance	ClinVar
18-3879162-T-C		not specified	Uncertain significance (Oct 09, 2024)
18-3879164-G-A		not specified	Uncertain significance (Nov 18, 2022)
18-3879181-C-T			Benign (May 17, 2018)
18-3879209-C-T		DLGAP1-related disorder	Likely benign (Feb 20, 2019)
18-3879217-G-T		DLGAP1-related disorder	Benign (Jun 08, 2018)
18-3879254-G-T		not specified	Uncertain significance (Apr 15, 2024)
18-3879263-A-T		DLGAP1-related disorder	Uncertain significance (May 22, 2024)
18-3879288-T-C		not specified	Uncertain significance (Feb 10, 2022)
18-3879336-C-A		Developmental disorder	Uncertain significance (Feb 12, 2022)
18-3879413-G-A		not specified	Uncertain significance (Jul 13, 2022)
18-3879414-A-C		not specified	Uncertain significance (Aug 14, 2024)
18-3879441-C-T		not specified	Uncertain significance (May 31, 2022)
18-3879476-G-A		not specified	Uncertain significance (May 28, 2024)
18-3879502-C-T			Likely benign (Sep 01, 2022)
18-3879504-C-T		not specified	Uncertain significance (Jul 09, 2024)
18-3879509-C-G		not specified	Uncertain significance (Nov 08, 2024)
18-3879509-C-T		not specified	Uncertain significance (Jan 09, 2024)
18-3879533-C-T		not specified	Uncertain significance (Jul 14, 2023)
18-3879536-T-C		not specified	Uncertain significance (May 15, 2023)
18-3879551-G-A		not specified	Uncertain significance (Nov 22, 2023)
18-3879648-G-A		DLGAP1-related disorder	Likely benign (Jan 06, 2020)
18-3879651-G-C		not specified	Uncertain significance (Dec 06, 2024)
18-3879663-C-T		DLGAP1-related disorder	Likely benign (Apr 06, 2022)
18-3879668-C-T		not specified	Uncertain significance (Dec 10, 2024)
18-3879687-C-G		not specified	Uncertain significance (Sep 20, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP