ALG13-AS1

ALG13 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): X:111706649-111711101

Links

ENSG00000229487 ∙ ∙ ∙ HGNC:41277 ∙ ∙ ∙ 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 ALG13-AS1 gene.

• Developmental and epileptic encephalopathy, 36 (66 variants)
• not provided (19 variants)
• Inborn genetic diseases (6 variants)
• not specified (5 variants)
• Epileptic encephalopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ALG13-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		1	40	36	2	79
Total	0	1	40	36	2

Variants in ALG13-AS1

This is a list of pathogenic ClinVar variants found in the ALG13-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-111707814-C-T			Benign (Jun 26, 2018)
X-111708010-T-C		Developmental and epileptic encephalopathy, 36	Likely benign (Jun 09, 2023)
X-111708012-C-T		Developmental and epileptic encephalopathy, 36	Likely benign (Jan 23, 2023)
X-111708012-CTCT-C		Developmental and epileptic encephalopathy, 36	Likely benign (Dec 20, 2023)
X-111708015-T-G		Developmental and epileptic encephalopathy, 36	Likely benign (Jan 03, 2024)
X-111708019-T-C		Developmental and epileptic encephalopathy, 36	Likely benign (Jan 14, 2021)
X-111708022-C-T		Developmental and epileptic encephalopathy, 36 • Inborn genetic diseases • ALG13-related disorder	Benign/Likely benign (Jan 29, 2024)
X-111708027-G-A			Uncertain significance (Sep 06, 2023)
X-111708031-C-G		Developmental and epileptic encephalopathy, 36	Uncertain significance (Oct 13, 2022)
X-111708032-T-C		Developmental and epileptic encephalopathy, 36 • Inborn genetic diseases	Conflicting classifications of pathogenicity (Nov 24, 2023)
X-111708042-T-C		Developmental and epileptic encephalopathy, 36	Likely benign (Sep 28, 2023)
X-111708046-C-G		Developmental and epileptic encephalopathy, 36	Uncertain significance (Dec 08, 2018)
X-111708053-A-G		Developmental and epileptic encephalopathy, 36	Uncertain significance (Jan 26, 2024)
X-111708054-G-C		Epileptic encephalopathy	Uncertain significance (Mar 30, 2016)
X-111708054-G-GT		Seizure	Likely pathogenic (Jun 24, 2024)
X-111708060-T-C		Developmental and epileptic encephalopathy, 36 • Inborn genetic diseases	Likely benign (Jan 31, 2024)
X-111708062-C-T		Developmental and epileptic encephalopathy, 36	Conflicting classifications of pathogenicity (Jan 17, 2024)
X-111708065-C-T		Developmental and epileptic encephalopathy, 36	Uncertain significance (Oct 09, 2023)
X-111708067-G-A		Developmental and epileptic encephalopathy, 36	Uncertain significance (Feb 18, 2021)
X-111708069-T-C		not specified • Developmental and epileptic encephalopathy, 36	Likely benign (Jan 06, 2024)
X-111708072-T-C		Developmental and epileptic encephalopathy, 36	Likely benign (Sep 21, 2022)
X-111708073-G-A		Developmental and epileptic encephalopathy, 36	Uncertain significance (Jun 18, 2021)
X-111708073-G-C			Uncertain significance (Jun 15, 2023)
X-111708075-G-A		Developmental and epileptic encephalopathy, 36	Likely benign (Sep 05, 2023)
X-111708075-G-C		Developmental and epileptic encephalopathy, 36	Likely benign (Sep 24, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP