ZNF341-AS1
Basic information
Region (hg38): 20:33787373-33812321
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (140 variants)
- Inborn genetic diseases (24 variants)
- Hyper-IgE recurrent infection syndrome 3, autosomal recessive (4 variants)
- not specified (2 variants)
- Long QT syndrome (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF341-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 | 81 | 55 | 12 | 149 | ||
Total | 1 | 0 | 81 | 55 | 12 |
Variants in ZNF341-AS1
This is a list of pathogenic ClinVar variants found in the ZNF341-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 |
---|---|---|---|---|
20-33788845-T-C | Likely benign (Dec 15, 2024) | |||
20-33788846-G-A | Benign (Feb 03, 2025) | |||
20-33788846-G-C | Likely benign (Aug 18, 2023) | |||
20-33788857-C-T | Likely benign (Nov 13, 2023) | |||
20-33788858-T-C | Benign (Oct 19, 2024) | |||
20-33788859-G-A | Likely benign (Sep 23, 2024) | |||
20-33788867-G-A | Likely benign (Apr 08, 2022) | |||
20-33788870-G-A | Likely benign (Nov 18, 2023) | |||
20-33788887-T-C | Uncertain significance (Dec 12, 2023) | |||
20-33788891-C-T | Likely benign (Nov 05, 2024) | |||
20-33788899-C-T | Uncertain significance (Dec 02, 2024) | |||
20-33788900-G-T | Likely benign (Nov 04, 2024) | |||
20-33788906-C-A | not specified | Uncertain significance (Mar 21, 2023) | ||
20-33788906-C-T | Likely benign (Jun 24, 2024) | |||
20-33788907-C-T | Uncertain significance (Dec 11, 2023) | |||
20-33788913-G-A | Uncertain significance (Aug 21, 2022) | |||
20-33788919-C-T | Likely benign (Dec 26, 2023) | |||
20-33788924-G-A | Likely benign (Nov 04, 2024) | |||
20-33788926-G-A | not specified | Uncertain significance (Dec 11, 2023) | ||
20-33788930-CAT-C | Pathogenic (Mar 12, 2022) | |||
20-33788939-C-T | ZNF341-related disorder | Benign (Feb 03, 2025) | ||
20-33788942-C-T | ZNF341-related disorder | Benign (Feb 03, 2025) | ||
20-33788944-A-G | Uncertain significance (Jan 15, 2025) | |||
20-33788948-C-T | Likely benign (Sep 01, 2022) | |||
20-33788953-A-G | Uncertain significance (Aug 05, 2022) |
GnomAD
Source:
dbNSFP
Source: