ITGA2-AS1

ITGA2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 5:52930606-52990278

Links

ENSG00000249899 ∙ ∙ ∙ HGNC:40306 ∙ ∙ ∙ 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 ITGA2-AS1 gene.

• Inborn genetic diseases (14 variants)
• not provided (12 variants)
• Platelet-type bleeding disorder 9 (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ITGA2-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			17	2	12	31
Total	0	0	17	2	12

Variants in ITGA2-AS1

This is a list of pathogenic ClinVar variants found in the ITGA2-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
5-52932059-A-G			Likely benign (Mar 01, 2022)
5-52932060-C-A		not specified	Uncertain significance (Jul 17, 2023)
5-52932103-C-T		not specified	Uncertain significance (Mar 20, 2024)
5-52933895-T-C		not specified	Uncertain significance (Jun 26, 2023)
5-52933919-A-G		not specified	Uncertain significance (Mar 07, 2023)
5-52933929-A-G		not specified	Uncertain significance (Jun 05, 2023)
5-52933933-G-T		not specified	Uncertain significance (Jul 15, 2021)
5-52933964-G-A		not specified	Uncertain significance (Jun 21, 2022)
5-52933973-A-C		not specified	Uncertain significance (Feb 26, 2024)
5-52937502-G-C		not specified	Uncertain significance (Dec 07, 2021)
5-52939596-A-G		not specified	Uncertain significance (Dec 14, 2023)
5-52939621-A-T		not specified	Uncertain significance (Jun 21, 2022)
5-52939842-C-T			Likely benign (Aug 15, 2018)
5-52939845-C-G		not specified	Uncertain significance (Jul 19, 2023)
5-52944945-A-G			Benign (Jul 06, 2018)
5-52945020-C-A			Benign (Jun 20, 2018)
5-52947363-A-G		not specified	Uncertain significance (Nov 10, 2022)
5-52952419-A-C		not specified	Uncertain significance (Sep 13, 2023)
5-52952443-G-A		not specified	Uncertain significance (Oct 27, 2021)
5-52989247-C-G			Benign (Nov 12, 2018)
5-52989268-G-T			Benign (Nov 12, 2018)
5-52989287-T-C			Benign (Nov 12, 2018)
5-52989345-G-A		Platelet-type bleeding disorder 9	Benign (Jun 20, 2021)
5-52989370-G-C		Platelet-type bleeding disorder 9	Uncertain significance (Jun 14, 2016)
5-52989380-T-A		Platelet-type bleeding disorder 9	Uncertain significance (Jan 13, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP