ADIPOQ-AS1

ADIPOQ antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:186851886-186856123

Links

ENSG00000226482 ∙ NCBI:100874095 ∙ ∙ HGNC:40648 ∙ ∙ ∙ 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 ADIPOQ-AS1 gene.

• not provided (8 variants)
• Inborn genetic diseases (3 variants)
• Adiponectin deficiency (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADIPOQ-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)			1			1
splice region						0
non coding	2		5	4	1	12
Total	2	0	6	4	1

Highest pathogenic variant AF is 0.0000263

Variants in ADIPOQ-AS1

This is a list of pathogenic ClinVar variants found in the ADIPOQ-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
3-186853079-TCTA-T			Likely benign (Dec 31, 2019)
3-186853097-GC-G			Uncertain significance (Oct 06, 2017)
3-186853103-T-G		ADIPOQ-related disorder	Benign (Oct 30, 2019)
3-186853171-G-A			Benign (Jan 03, 2019)
3-186853191-G-C			Uncertain significance (May 24, 2021)
3-186853249-A-G			Uncertain significance (Sep 19, 2017)
3-186854218-C-T			Likely benign (Jan 04, 2018)
3-186854226-C-T		not specified	Uncertain significance (Mar 22, 2023)
3-186854237-G-A		ADIPOQ-related disorder	Likely benign (Dec 31, 2019)
3-186854241-CCCGAGGCTTT-C		Adiponectin deficiency	Pathogenic (May 11, 2023)
3-186854242-C-A		ADIPOQ-related disorder	Likely benign (Feb 28, 2019)
3-186854253-C-T		not specified	Uncertain significance (Feb 28, 2024)
3-186854257-A-T		ADIPOQ-related disorder	Likely benign (Mar 31, 2022)
3-186854282-G-A		not specified	Uncertain significance (Dec 16, 2023)
3-186854300-T-C		ADIPOQ-related disorder	Benign (Sep 24, 2019)
3-186854303-C-T		Adiponectin deficiency	Pathogenic (Oct 10, 2003)
3-186854316-G-A		not specified	Uncertain significance (Mar 01, 2024)
3-186854494-C-G		ADIPOQ-related disorder	Likely benign (Feb 28, 2019)
3-186854589-T-G		not specified	Uncertain significance (May 01, 2024)
3-186854627-G-T			Uncertain significance (Jun 01, 2023)
3-186854631-G-A		not specified	Likely benign (Jun 23, 2021)
3-186854656-C-A		not specified	Uncertain significance (Mar 19, 2024)
3-186854700-A-T		not specified	Uncertain significance (Jun 17, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP