IL21R-AS1

IL21R antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 16:27447669-27453393

Links

ENSG00000259954 ∙ NCBI:283888 ∙ ∙ HGNC:27551 ∙ ∙ ∙ 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 IL21R-AS1 gene.

• Cryptosporidiosis-chronic cholangitis-liver disease syndrome (119 variants)
• not provided (10 variants)
• Inborn genetic diseases (10 variants)
• IgE responsiveness, atopic;Cryptosporidiosis-chronic cholangitis-liver disease syndrome (2 variants)
• IL21R-related condition (1 variants)
• Cryptosporidiosis-chronic cholangitis-liver disease syndrome;IgE responsiveness, atopic (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL21R-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		1	83	41	8	133
Total	0	1	83	41	8

Variants in IL21R-AS1

This is a list of pathogenic ClinVar variants found in the IL21R-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
16-27448312-G-A			Benign (Jun 19, 2021)
16-27448536-A-T		Inborn genetic diseases	Uncertain significance (Aug 05, 2024)
16-27448541-T-C		Cryptosporidiosis-chronic cholangitis-liver disease syndrome	Uncertain significance (Sep 01, 2021)
16-27448546-G-A		Inborn genetic diseases	Likely benign (Dec 16, 2023)
16-27448569-G-T		Cryptosporidiosis-chronic cholangitis-liver disease syndrome	Likely benign (Dec 19, 2023)
16-27448575-G-A		Cryptosporidiosis-chronic cholangitis-liver disease syndrome • IL21R-related disorder	Likely benign (Nov 27, 2023)
16-27448576-G-T		Cryptosporidiosis-chronic cholangitis-liver disease syndrome	Uncertain significance (Mar 28, 2019)
16-27448599-C-T		Cryptosporidiosis-chronic cholangitis-liver disease syndrome	Likely benign (May 29, 2022)
16-27448600-T-C		Cryptosporidiosis-chronic cholangitis-liver disease syndrome	Uncertain significance (Jul 26, 2019)
16-27448603-A-G		Cryptosporidiosis-chronic cholangitis-liver disease syndrome	Uncertain significance (Dec 31, 2019)
16-27448608-G-A		Cryptosporidiosis-chronic cholangitis-liver disease syndrome • IL21R-related disorder	Likely benign (Aug 15, 2022)
16-27448610-AG-A		Cryptosporidiosis-chronic cholangitis-liver disease syndrome	Likely pathogenic (May 22, 2022)
16-27448613-T-C		Cryptosporidiosis-chronic cholangitis-liver disease syndrome	Uncertain significance (Apr 07, 2022)
16-27448620-C-G		Cryptosporidiosis-chronic cholangitis-liver disease syndrome	Benign (Jan 24, 2024)
16-27448623-C-T			Likely benign (Jun 26, 2018)
16-27448628-C-A		Cryptosporidiosis-chronic cholangitis-liver disease syndrome	Uncertain significance (Jul 09, 2018)
16-27448634-G-A		Cryptosporidiosis-chronic cholangitis-liver disease syndrome • Inborn genetic diseases	Conflicting classifications of pathogenicity (Oct 09, 2024)
16-27448636-A-G		Cryptosporidiosis-chronic cholangitis-liver disease syndrome	Uncertain significance (Mar 03, 2022)
16-27448638-C-A		Cryptosporidiosis-chronic cholangitis-liver disease syndrome	Uncertain significance (Oct 03, 2022)
16-27448640-C-T		Cryptosporidiosis-chronic cholangitis-liver disease syndrome	Uncertain significance (Aug 22, 2022)
16-27448641-G-A		Cryptosporidiosis-chronic cholangitis-liver disease syndrome	Likely benign (Feb 10, 2022)
16-27448642-G-A		Cryptosporidiosis-chronic cholangitis-liver disease syndrome	Uncertain significance (Mar 05, 2022)
16-27448643-C-T		Cryptosporidiosis-chronic cholangitis-liver disease syndrome	Uncertain significance (May 17, 2022)
16-27448644-C-A		Cryptosporidiosis-chronic cholangitis-liver disease syndrome	Likely benign (Apr 17, 2023)
16-27448644-C-G		Cryptosporidiosis-chronic cholangitis-liver disease syndrome	Likely benign (Jul 04, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP