IL21-AS1
Basic information
Region (hg38): 4:122618983-122689164
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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) | 0 | |||||
splice region | 0 | |||||
non coding | 18 | 18 | 36 | |||
Total | 0 | 0 | 18 | 18 | 0 |
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) | |||
4-122620744-A-G | Likely benign (Sep 21, 2024) | |||
4-122620752-A-G | Likely benign (Aug 13, 2024) | |||
4-122620756-G-A | Likely benign (Sep 14, 2024) | |||
4-122620824-T-G | Likely benign (May 25, 2023) | |||
4-122620826-T-C | Likely benign (Oct 24, 2023) | |||
4-122620827-G-A | Likely benign (Oct 30, 2024) | |||
4-122620827-G-C | Likely benign (Apr 22, 2024) | |||
4-122620828-A-T | Likely benign (Mar 01, 2024) | |||
4-122620829-C-T | Likely benign (Sep 07, 2023) | |||
4-122620834-A-T | Likely benign (May 02, 2024) | |||
4-122620835-T-C | Likely benign (Apr 01, 2024) | |||
4-122620836-A-G | Likely benign (Dec 08, 2024) | |||
4-122620847-G-A | Likely benign (Mar 07, 2024) | |||
4-122620866-A-G | IL21-related infantile inflammatory bowel disease | Pathogenic (Apr 17, 2014) | ||
4-122620878-A-G | not specified | Uncertain significance (May 28, 2024) | ||
4-122620882-C-T | Uncertain significance (Oct 21, 2021) | |||
4-122620884-A-G | Uncertain significance (Mar 13, 2024) | |||
4-122620885-T-A | not specified | Conflicting classifications of pathogenicity (Dec 12, 2024) | ||
4-122620893-C-T | IL21-related infantile inflammatory bowel disease | Uncertain significance (Sep 18, 2024) | ||
4-122620894-G-A | Uncertain significance (Oct 13, 2024) |
GnomAD
Source:
dbNSFP
Source: