DNAH8-AS1
Basic information
Region (hg38): 6:38923029-38953105
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Ciliary dyskinesia (173 variants)
- not provided (39 variants)
- Inborn genetic diseases (27 variants)
- Spermatogenic failure 46 (5 variants)
- not specified (3 variants)
- DNAH8-related condition (2 variants)
- Recurrent infections of the middle ear;Recurrent respiratory infections (1 variants)
- Recurrent infections (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAH8-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) | 1 | |||||
splice region | 0 | |||||
non coding | 102 | 63 | 41 | 214 | ||
Total | 4 | 4 | 103 | 63 | 41 |
Highest pathogenic variant AF is 0.0000526
Variants in DNAH8-AS1
This is a list of pathogenic ClinVar variants found in the DNAH8-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 |
---|---|---|---|---|
6-38923040-C-T | Primary ciliary dyskinesia | Likely benign (Mar 18, 2024) | ||
6-38923045-A-G | Primary ciliary dyskinesia | Likely benign (Sep 14, 2022) | ||
6-38923046-T-C | Primary ciliary dyskinesia | Likely benign (Sep 20, 2022) | ||
6-38923052-C-A | Primary ciliary dyskinesia | Likely benign (Sep 07, 2022) | ||
6-38923056-A-G | Primary ciliary dyskinesia | Likely pathogenic (Dec 19, 2023) | ||
6-38923067-A-G | Primary ciliary dyskinesia • not specified | Uncertain significance (Mar 12, 2024) | ||
6-38923068-A-C | not specified | Uncertain significance (Feb 12, 2024) | ||
6-38923069-T-C | Likely benign (Sep 05, 2018) | |||
6-38923073-G-A | Primary ciliary dyskinesia | Likely benign (Jan 20, 2025) | ||
6-38923080-C-T | Primary ciliary dyskinesia • DNAH8-related disorder • not specified | Conflicting classifications of pathogenicity (Jun 12, 2023) | ||
6-38923081-G-A | Primary ciliary dyskinesia | Likely benign (Jul 31, 2024) | ||
6-38923085-C-T | Primary ciliary dyskinesia • not specified | Uncertain significance (Nov 27, 2023) | ||
6-38923086-G-A | Primary ciliary dyskinesia | Uncertain significance (Sep 21, 2022) | ||
6-38923102-C-T | Primary ciliary dyskinesia | Likely benign (May 27, 2021) | ||
6-38923131-G-A | not specified | Uncertain significance (May 16, 2024) | ||
6-38923133-G-GA | Primary ciliary dyskinesia | Pathogenic (May 27, 2024) | ||
6-38923155-A-G | Uncertain significance (Apr 26, 2021) | |||
6-38923168-C-G | Primary ciliary dyskinesia | Conflicting classifications of pathogenicity (Dec 10, 2024) | ||
6-38923189-G-A | Primary ciliary dyskinesia • DNAH8-related disorder | Likely benign (Jan 15, 2025) | ||
6-38923193-T-C | Primary ciliary dyskinesia | Likely benign (Sep 05, 2023) | ||
6-38923198-G-C | Primary ciliary dyskinesia | Likely benign (Mar 23, 2024) | ||
6-38923201-T-G | Primary ciliary dyskinesia | Likely benign (Apr 22, 2023) | ||
6-38923292-T-G | Benign (Nov 11, 2018) | |||
6-38923310-A-C | Benign (May 24, 2021) | |||
6-38923986-C-T | Primary ciliary dyskinesia | Likely benign (Jul 28, 2023) |
GnomAD
Source:
dbNSFP
Source: