AQP4-AS1

AQP4 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 18:26655505-27190698

Previous symbols: [ "C18orf16", "CHST9-AS1" ]

Links

ENSG00000260372 ∙ NCBI:147429 ∙ ∙ HGNC:26399 ∙ ∙ ∙ 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 AQP4-AS1 gene.

• Inborn genetic diseases (28 variants)
• not provided (8 variants)
• Intellectual disability (1 variants)
• not specified (1 variants)
• Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AQP4-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	1	28	3	5	38
Total	1	1	28	3	5

Highest pathogenic variant AF is 0.00000658

Variants in AQP4-AS1

This is a list of pathogenic ClinVar variants found in the AQP4-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
18-26856228-C-T		not specified	Uncertain significance (Oct 16, 2015)
18-26856264-C-T		not specified	Uncertain significance (Jul 28, 2021)
18-26856289-C-T			Benign (Dec 31, 2019)
18-26856296-G-C		not specified	Uncertain significance (Jan 26, 2022)
18-26856310-G-T		not specified	Uncertain significance (Feb 16, 2023)
18-26856317-G-A		EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)
18-26856364-T-C			Benign (Dec 04, 2018)
18-26856371-T-C		not specified	Uncertain significance (Oct 17, 2023)
18-26856405-G-A		not specified	Uncertain significance (Mar 16, 2022)
18-26856469-G-C		not specified	Uncertain significance (Mar 31, 2023)
18-26856489-T-C		not specified	Uncertain significance (Aug 30, 2022)
18-26860795-T-A		not specified	Uncertain significance (Feb 05, 2024)
18-26860819-G-A		Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting	Uncertain significance (Jan 10, 2022)
18-26860822-C-T		Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting	Pathogenic (Jul 19, 2023)
18-26861158-A-T		not specified	Uncertain significance (Feb 21, 2024)
18-26861165-A-G			Likely benign (Jun 15, 2018)
18-26861177-A-G		not specified	Uncertain significance (Feb 21, 2024)
18-26861191-A-T			Benign (Nov 20, 2018)
18-26862223-C-A		not specified	Uncertain significance (May 04, 2022)
18-26862243-C-G		not specified	Uncertain significance (Sep 13, 2023)
18-26862246-A-G		AQP4-related disorder	Likely benign (Apr 28, 2020)
18-26862297-C-G		Intellectual disability	Likely pathogenic (Nov 01, 2017)
18-26862319-T-C		not specified	Uncertain significance (Aug 17, 2022)
18-26862419-C-A		not specified	Uncertain significance (Aug 01, 2022)
18-26862428-C-A		AQP4-related disorder	Benign (Oct 18, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP