IL6R-AS1
Basic information
Region (hg38): 1:154402328-154406564
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (10 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL6R-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 | 10 | |||||
Total | 0 | 0 | 7 | 3 | 0 |
Variants in IL6R-AS1
This is a list of pathogenic ClinVar variants found in the IL6R-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 |
---|---|---|---|---|
1-154405634-TGGCCGTC-T | Uncertain significance (Aug 11, 2021) | |||
1-154405636-G-T | IL6R-related disorder | Uncertain significance (Jun 09, 2022) | ||
1-154405639-G-T | Uncertain significance (Aug 19, 2022) | |||
1-154405676-C-T | Uncertain significance (Jul 12, 2022) | |||
1-154405679-G-C | Uncertain significance (Jan 08, 2024) | |||
1-154405680-A-G | IL6R-related disorder | Benign/Likely benign (Jan 29, 2024) | ||
1-154405684-G-A | Uncertain significance (Jun 17, 2022) | |||
1-154405706-C-T | Uncertain significance (Aug 13, 2021) | |||
1-154405725-C-A | Likely benign (Aug 09, 2023) | |||
1-154405726-G-T | Likely benign (Sep 26, 2022) | |||
1-154405728-G-A | Likely benign (Jan 22, 2023) | |||
1-154405733-C-T | Likely benign (Jun 06, 2023) |
GnomAD
Source:
dbNSFP
Source: