IL12A-AS1
Basic information
Region (hg38): 3:159902045-160226966
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (5 variants)
- Inborn genetic diseases (5 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL12A-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 | 5 | 2 | 3 |
Variants in IL12A-AS1
This is a list of pathogenic ClinVar variants found in the IL12A-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 |
---|---|---|---|---|
3-159989073-C-T | not specified | Uncertain significance (Feb 28, 2023) | ||
3-159989102-G-A | not specified | Likely benign (Dec 30, 2023) | ||
3-159990227-C-T | not specified | Uncertain significance (Apr 24, 2024) | ||
3-159990236-C-A | not specified | Uncertain significance (Jul 06, 2021) | ||
3-159990280-C-G | not specified | Uncertain significance (Jul 21, 2022) | ||
3-159993053-G-A | Likely benign (Aug 01, 2018) | |||
3-159993099-G-A | not specified | Uncertain significance (Dec 19, 2022) | ||
3-159993586-T-A | not specified | Uncertain significance (Dec 09, 2023) | ||
3-159993749-G-A | not specified | Uncertain significance (Aug 04, 2023) | ||
3-159993805-A-G | Benign (Jul 19, 2018) | |||
3-159993815-A-G | not specified | Uncertain significance (Oct 30, 2023) | ||
3-159995428-G-A | Benign (Apr 01, 2023) | |||
3-159995456-C-T | Likely benign (Aug 22, 2018) | |||
3-159995457-G-A | Benign (Aug 08, 2018) | |||
3-160226325-A-G | Likely benign (Mar 01, 2022) | |||
3-160226349-C-A | not specified | Uncertain significance (Nov 15, 2021) |
GnomAD
Source:
dbNSFP
Source: