AQP5-AS1

AQP5 and AQP2 antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 12:49951512-49975539

Links

ENSG00000257588 ∙ NCBI:101927318 ∙ ∙ HGNC:55474 ∙ ∙ ∙ 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 AQP5-AS1 gene.

• not provided (117 variants)
• Diabetes insipidus, nephrogenic, autosomal (108 variants)
• Nephrogenic diabetes insipidus (18 variants)
• Inborn genetic diseases (12 variants)
• Palmoplantar keratoderma, Bothnian type (2 variants)
• not specified (2 variants)
• Hereditary disease (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AQP5-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	22	13	67	79	39	220
Total	22	13	67	79	39

Highest pathogenic variant AF is 0.0000723

Variants in AQP5-AS1

This is a list of pathogenic ClinVar variants found in the AQP5-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
12-49951517-G-A			Benign (Nov 10, 2018)
12-49953905-T-G			Benign (Nov 10, 2018)
12-49954135-C-A			Likely benign (Mar 03, 2023)
12-49954135-C-T		not specified	Likely benign (Dec 11, 2024)
12-49954136-G-A			Likely benign (Jul 16, 2023)
12-49954136-G-T			Likely benign (Jun 23, 2023)
12-49954145-C-T			Likely benign (Mar 02, 2023)
12-49954146-T-C			Likely benign (May 21, 2021)
12-49954147-G-C			Likely benign (Jun 02, 2023)
12-49954153-A-G			Likely pathogenic (Dec 02, 2023)
12-49954157-C-G			Likely benign (Jul 18, 2023)
12-49954162-AC-A		Diabetes insipidus, nephrogenic, autosomal	Pathogenic (Jun 02, 2023)
12-49954168-C-T		Diabetes insipidus, nephrogenic, autosomal	Pathogenic/Likely pathogenic (Mar 20, 2024)
12-49954168-CG-C		Nephrogenic diabetes insipidus	Pathogenic (May 29, 2018)
12-49954169-G-A		not specified	Benign/Likely benign (Jan 29, 2024)
12-49954171-C-A		not specified	Uncertain significance (Jul 02, 2024)
12-49954171-C-T		Diabetes insipidus, nephrogenic, autosomal • Diabetes insipidus	Pathogenic/Likely pathogenic (Oct 04, 2024)
12-49954172-G-A			Likely benign (Apr 25, 2024)
12-49954178-C-T			Likely benign (Mar 17, 2023)
12-49954181-G-A			Likely benign (Oct 18, 2023)
12-49954183-C-T		Diabetes insipidus, nephrogenic, autosomal	Likely pathogenic (Apr 04, 2024)
12-49954184-G-A			Likely benign (Feb 05, 2024)
12-49954184-G-C		Diabetes insipidus, nephrogenic, autosomal	Conflicting classifications of pathogenicity (Dec 28, 2023)
12-49954185-G-A		Diabetes insipidus, nephrogenic, autosomal • Inborn genetic diseases	Uncertain significance (Jan 04, 2022)
12-49954187-G-A			Likely benign (Feb 24, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP