IQSEC3-AS1

IQSEC3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:164608-182508

Links

ENSG00000256540 ∙ NCBI:105369592 ∙ ∙ HGNC:56002 ∙ ∙ ∙ 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 IQSEC3-AS1 gene.

• Inborn genetic diseases (3 variants)
• not provided (2 variants)
• Arthrogryposis multiplex congenita;Fetal akinesia deformation sequence 1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IQSEC3-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			4	2		6
Total	0	0	4	2	0

Variants in IQSEC3-AS1

This is a list of pathogenic ClinVar variants found in the IQSEC3-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
12-165441-A-G		not specified	Uncertain significance (Dec 03, 2024)
12-165450-C-A		not specified	Uncertain significance (Feb 12, 2025)
12-165471-C-T		not specified	Uncertain significance (Feb 11, 2025)
12-165530-G-GAGTGTAAGTCTTTGACAGCC			Benign (Nov 23, 2019)
12-165810-C-T		not specified	Uncertain significance (Mar 20, 2023)
12-165848-T-G		not specified	Uncertain significance (Jul 14, 2024)
12-165899-A-G			Benign (Jan 20, 2021)
12-169030-C-G		not specified	Uncertain significance (Mar 30, 2024)
12-169034-G-A		not specified	Uncertain significance (Dec 27, 2024)
12-169037-C-G		not specified	Uncertain significance (Jan 17, 2024)
12-169063-G-A		not specified	Uncertain significance (Jan 22, 2024)
12-169100-C-T		not specified	Uncertain significance (Jan 19, 2024)
12-171125-C-T			Likely benign (Apr 01, 2022)
12-171147-G-A		not specified	Uncertain significance (Dec 09, 2024)
12-171154-C-T		not specified	Uncertain significance (Aug 02, 2021)
12-171302-C-T		IQSEC3-related disorder	Likely benign (Mar 21, 2022)
12-174886-G-T			Likely benign (Jul 01, 2022)
12-175002-G-A		not specified	Uncertain significance (Aug 13, 2021)
12-175030-G-A		Fetal akinesia deformation sequence 1;Arthrogryposis multiplex congenita	Uncertain significance (Jun 28, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP