IFNG-AS1
Basic information
Region (hg38): 12:67989446-68234686
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Aplastic anemia (19 variants)
- not provided (15 variants)
- Inborn genetic diseases (13 variants)
- Immunodeficiency 69 (2 variants)
- not specified (1 variants)
- Tsc2 angiomyolipomas, renal, modifier of (1 variants)
- Mycobacterium tuberculosis, protection against (1 variants)
- Acquired immunodeficiency syndrome, rapid progression to (1 variants)
- Hepatitis C virus infection, response to therapy of (1 variants)
- Aplastic anemia, susceptibility to (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the IFNG-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 | 28 | 40 | ||||
Total | 2 | 0 | 28 | 4 | 6 |
Highest pathogenic variant AF is 0.00691
Variants in IFNG-AS1
This is a list of pathogenic ClinVar variants found in the IFNG-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 |
---|---|---|---|---|
12-68154814-T-C | Aplastic anemia | Benign (Jan 13, 2018) | ||
12-68154853-G-A | Aplastic anemia | Likely benign (Jan 13, 2018) | ||
12-68154888-T-A | Aplastic anemia | Likely benign (Jan 13, 2018) | ||
12-68155122-A-G | Aplastic anemia | Uncertain significance (Jan 12, 2018) | ||
12-68155166-A-C | Aplastic anemia | Uncertain significance (Jan 13, 2018) | ||
12-68155173-G-A | Aplastic anemia | Benign (Jan 13, 2018) | ||
12-68155246-T-C | Aplastic anemia | Uncertain significance (Jan 13, 2018) | ||
12-68155252-TTTGA-T | Aplastic anemia | Uncertain significance (Jun 14, 2016) | ||
12-68155331-A-T | Aplastic anemia | Uncertain significance (Jan 12, 2018) | ||
12-68155344-G-A | Aplastic anemia | Uncertain significance (Jan 12, 2018) | ||
12-68155423-G-A | Aplastic anemia | Uncertain significance (Jan 12, 2018) | ||
12-68155423-G-T | Aplastic anemia | Uncertain significance (Apr 28, 2017) | ||
12-68155427-G-T | not specified | Uncertain significance (Apr 01, 2024) | ||
12-68155445-T-C | Uncertain significance (Nov 30, 2021) | |||
12-68155466-G-A | not specified | Uncertain significance (Sep 28, 2022) | ||
12-68155714-C-G | not provided (-) | |||
12-68155769-A-T | not provided (-) | |||
12-68155906-A-G | not provided (-) | |||
12-68157553-C-G | not provided (-) | |||
12-68157563-T-A | not provided (-) | |||
12-68157629-C-T | Benign (Nov 12, 2018) | |||
12-68157774-A-G | not provided (-) | |||
12-68157921-TAGTC-T | Immunodeficiency 69 | Pathogenic (Mar 23, 2022) | ||
12-68157954-T-C | not specified | Uncertain significance (May 31, 2023) | ||
12-68157994-G-A | Aplastic anemia | Uncertain significance (Jan 12, 2018) |
GnomAD
Source:
dbNSFP
Source:
Mouse Genome Informatics
- Gene name
- Ifngas1
- Phenotype