IL21-AS1

IL21 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 4:122618983-122689164

Links

ENSG00000227145 ∙ ∙ ∙ HGNC:40299 ∙ ∙ ∙ 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 IL21-AS1 gene.

• not provided (22 variants)
• IL21-related infantile inflammatory bowel disease (2 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL21-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)	1					1
splice region						0
non coding			11	11		22
Total	1	0	11	11	0

Highest pathogenic variant AF is 0.00000657

Variants in IL21-AS1

This is a list of pathogenic ClinVar variants found in the IL21-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
4-122620681-A-G			Likely benign (Sep 09, 2022)
4-122620683-A-T			Likely benign (Oct 21, 2022)
4-122620693-G-T			Likely benign (Sep 01, 2023)
4-122620694-G-A			Likely benign (Dec 19, 2018)
4-122620730-C-G			Uncertain significance (Nov 29, 2022)
4-122620756-G-A			Likely benign (Dec 04, 2023)
4-122620824-T-G			Likely benign (May 25, 2023)
4-122620826-T-C			Likely benign (Oct 24, 2023)
4-122620827-G-C			Likely benign (May 02, 2023)
4-122620829-C-T			Likely benign (Sep 07, 2023)
4-122620835-T-C			Likely benign (Mar 19, 2022)
4-122620836-A-G			Likely benign (Aug 16, 2023)
4-122620847-G-A			Likely benign (Oct 13, 2023)
4-122620866-A-G		IL21-related infantile inflammatory bowel disease	Pathogenic (Apr 17, 2014)
4-122620878-A-G		not specified	Uncertain significance (Apr 26, 2024)
4-122620882-C-T			Uncertain significance (Oct 21, 2021)
4-122620884-A-G			Uncertain significance (Feb 14, 2023)
4-122620885-T-A		not specified	Conflicting classifications of pathogenicity (Jan 04, 2024)
4-122620893-C-T		IL21-related infantile inflammatory bowel disease	Uncertain significance (Dec 25, 2023)
4-122620894-G-A			Uncertain significance (Jun 24, 2023)
4-122620894-G-C			Uncertain significance (Jan 26, 2022)
4-122620895-C-T			Uncertain significance (Oct 23, 2023)
4-122620912-G-A			Uncertain significance (Apr 02, 2021)
4-122620920-C-T			Uncertain significance (Feb 10, 2022)
4-122620929-C-T			Uncertain significance (Jul 12, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP