STAT4-AS1
Basic information
Region (hg38): 2:191021526-191032314
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (20 variants)
- Inborn genetic diseases (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the STAT4-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 | 11 | 20 | ||||
Total | 0 | 0 | 9 | 11 | 0 |
Variants in STAT4-AS1
This is a list of pathogenic ClinVar variants found in the STAT4-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 |
---|---|---|---|---|
2-191029849-A-G | Likely benign (Oct 26, 2022) | |||
2-191030962-G-A | Likely benign (Feb 11, 2023) | |||
2-191030973-G-A | Uncertain significance (Mar 08, 2021) | |||
2-191030975-A-C | Likely benign (Aug 11, 2021) | |||
2-191030975-A-G | Likely benign (Dec 18, 2021) | |||
2-191030979-T-G | Uncertain significance (Jul 19, 2022) | |||
2-191030982-ATTG-A | Uncertain significance (Oct 24, 2022) | |||
2-191030984-T-A | Likely benign (Nov 29, 2022) | |||
2-191030985-G-T | Uncertain significance (Nov 28, 2023) | |||
2-191030989-T-C | not specified | Uncertain significance (May 11, 2023) | ||
2-191031014-C-T | Likely benign (Oct 13, 2023) | |||
2-191031018-T-C | Uncertain significance (Oct 05, 2023) | |||
2-191031020-C-A | Likely benign (Jan 22, 2023) | |||
2-191031041-A-C | Likely benign (Aug 17, 2023) | |||
2-191031065-T-C | Likely benign (Jan 28, 2022) | |||
2-191031078-C-T | Uncertain significance (Oct 05, 2023) | |||
2-191031094-C-T | Likely benign (Feb 22, 2022) | |||
2-191031096-A-C | Likely benign (Jun 02, 2023) | |||
2-191031097-G-C | Likely benign (Mar 17, 2023) | |||
2-191031432-G-A | Likely benign (Aug 04, 2023) | |||
2-191031440-C-T | Likely benign (Jan 08, 2024) | |||
2-191031451-T-C | not specified | Uncertain significance (Jun 09, 2022) | ||
2-191031493-C-G | Uncertain significance (Oct 22, 2023) | |||
2-191031497-C-G | Uncertain significance (Feb 20, 2022) | |||
2-191031499-T-C | Uncertain significance (Nov 20, 2023) |
GnomAD
Source:
dbNSFP
Source: