ITIH4-AS1

ITIH4 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:52823935-52825314

Links

ENSG00000239799 ∙ ∙ ∙ HGNC:40310 ∙ ∙ ∙ 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 ITIH4-AS1 gene.

• Inborn genetic diseases (7 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ITIH4-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			5	3	2	10
Total	0	0	5	3	2

Variants in ITIH4-AS1

This is a list of pathogenic ClinVar variants found in the ITIH4-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
3-52823950-C-T		not specified	Likely benign (Mar 24, 2023)
3-52823951-G-A		not specified	Uncertain significance (Mar 13, 2023)
3-52823967-C-T			Benign (Mar 29, 2018)
3-52823972-C-T		ITIH4-related disorder	Likely benign (Aug 09, 2018)
3-52824206-A-G			Benign (Jul 18, 2018)
3-52824209-G-A		ITIH4-related disorder	Likely benign (Jun 11, 2020)
3-52824226-G-A		not specified	Uncertain significance (Nov 09, 2024)
3-52824226-G-C		not specified	Uncertain significance (Dec 06, 2024)
3-52824249-C-T		not specified	Uncertain significance (May 06, 2022)
3-52824289-T-C		not specified	Likely benign (Mar 22, 2023)
3-52824417-G-A		not specified	Uncertain significance (Sep 17, 2021)
3-52824442-C-T		not specified	Uncertain significance (Sep 17, 2021)
3-52824510-T-G		not specified	Uncertain significance (Oct 24, 2024)
3-52824906-A-G		not specified	Uncertain significance (Dec 14, 2023)
3-52824907-T-C		not specified	Uncertain significance (Jun 22, 2024)
3-52824921-T-C		not specified	Uncertain significance (Feb 01, 2023)
3-52824965-C-A		ITIH4-related disorder	Likely benign (Nov 06, 2020)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP