IQCH-AS1

IQCH antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 15:67290636-67521898

Links

ENSG00000259673 ∙ NCBI:100506686 ∙ ∙ HGNC:44104 ∙ ∙ ∙ 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 IQCH-AS1 gene.

• Inborn genetic diseases (38 variants)
• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IQCH-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)			2			2
splice region						0
non coding			30	9	2	41
Total	0	0	32	9	2

Variants in IQCH-AS1

This is a list of pathogenic ClinVar variants found in the IQCH-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
15-67336975-A-G		not specified	Likely benign (Oct 26, 2022)
15-67336997-A-G		not specified	Uncertain significance (Aug 27, 2024)
15-67337024-T-C		not specified	Uncertain significance (Apr 06, 2024)
15-67337040-T-A		not specified	Uncertain significance (Dec 03, 2024)
15-67337068-C-T		not specified	Uncertain significance (Sep 27, 2022)
15-67344108-G-A		not specified	Likely benign (Nov 18, 2022)
15-67344165-A-T		not specified	Uncertain significance (Jul 25, 2024)
15-67344173-C-T		not specified	Uncertain significance (Aug 12, 2021)
15-67344174-G-A		not specified	Likely benign (Jul 15, 2024)
15-67344185-A-G		not specified	Likely benign (Aug 02, 2023)
15-67357415-A-T		not specified	Likely benign (Sep 02, 2024)
15-67359848-G-A		not specified	Uncertain significance (Sep 26, 2023)
15-67359857-G-A		not specified	Likely benign (Jan 25, 2023)
15-67372124-A-G		not specified	Uncertain significance (Jul 19, 2023)
15-67372130-C-T		not specified	Uncertain significance (Aug 02, 2023)
15-67372177-G-T		not specified	Uncertain significance (Oct 05, 2023)
15-67372178-A-G		not specified	Uncertain significance (Jun 03, 2024)
15-67372196-C-T		not specified	Uncertain significance (Jul 27, 2024)
15-67372236-A-T		not specified	Uncertain significance (Dec 01, 2022)
15-67372267-C-G		not specified	Uncertain significance (Jun 10, 2024)
15-67372272-C-T			Benign (Nov 20, 2018)
15-67372286-G-A		not specified	Likely benign (Jul 02, 2024)
15-67372367-T-C		not specified	Uncertain significance (Mar 16, 2022)
15-67372367-T-G		not specified	Uncertain significance (May 23, 2023)
15-67372375-T-G		not specified	Uncertain significance (Aug 02, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP