ITGA6-AS1

ITGA6 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:172464259-172556596

Links

ENSG00000232788 ∙ ∙ ∙ HGNC:40308 ∙ ∙ ∙ 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 ITGA6-AS1 gene.

• not provided (7 variants)
• Epidermolysis bullosa, junctional 6, with pyloric atresia (2 variants)
• Junctional epidermolysis bullosa with pyloric atresia (1 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ITGA6-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			3	2	2	7
Total	0	0	3	2	4

Variants in ITGA6-AS1

This is a list of pathogenic ClinVar variants found in the ITGA6-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
2-172465237-T-A			Benign (Nov 12, 2018)
2-172465519-T-G			Likely benign (Feb 04, 2023)
2-172465520-GTC-G			Likely benign (Feb 23, 2024)
2-172465523-T-C			Likely benign (Feb 04, 2024)
2-172465529-T-G			Likely benign (Dec 20, 2022)
2-172465533-C-T			Likely benign (Mar 12, 2023)
2-172465540-T-C			Likely benign (May 02, 2023)
2-172465545-C-G			Likely benign (Nov 05, 2023)
2-172465545-C-T			Likely benign (Mar 09, 2024)
2-172465557-G-A		Epidermolysis bullosa, junctional 6, with pyloric atresia • ITGA6-related disorder	Likely benign (Mar 11, 2024)
2-172465569-G-A			Likely benign (Apr 06, 2023)
2-172465569-G-T			Likely benign (Jul 25, 2023)
2-172465589-A-G		Epidermolysis bullosa, junctional 6, with pyloric atresia	Uncertain significance (Jun 03, 2024)
2-172465596-G-A			Likely benign (Jul 07, 2024)
2-172465595-C-CGGGAGGGCTGTACA		Epidermolysis bullosa, junctional 6, with pyloric atresia	Likely pathogenic (Feb 18, 2024)
2-172465605-G-A			Likely benign (Mar 01, 2024)
2-172465611-C-CT		Epidermolysis bullosa, junctional 6, with pyloric atresia	Uncertain significance (Jan 03, 2024)
2-172465614-C-A		Junctional epidermolysis bullosa with pyloric atresia	Uncertain significance (Oct 10, 2018)
2-172465614-C-T		ITGA6-related disorder • Epidermolysis bullosa, junctional 6, with pyloric atresia	Likely benign (Mar 19, 2024)
2-172465621-A-T		Epidermolysis bullosa, junctional 6, with pyloric atresia	Uncertain significance (Jun 17, 2024)
2-172465623-C-T		ITGA6-related disorder	Likely benign (Feb 09, 2024)
2-172465624-G-A		Inborn genetic diseases	Uncertain significance (Oct 26, 2021)
2-172465624-G-GC		Epidermolysis bullosa, junctional 6, with pyloric atresia	Likely pathogenic (Mar 13, 2024)
2-172465628-G-C		Epidermolysis bullosa, junctional 6, with pyloric atresia	Uncertain significance (May 19, 2024)
2-172465640-C-T		Epidermolysis bullosa, junctional 6, with pyloric atresia	Uncertain significance (Feb 21, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP