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GeneBe

DNAH8-AS1

DNAH8 antisense RNA 1, the group of Antisense RNAs

Basic information

Links

ENSG00000231150NCBI:100131047HGNC:40188GenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DNAH8-AS1 gene.

  • 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
clinvar
1
splice region
0
non coding
4
clinvar
4
clinvar
102
clinvar
63
clinvar
41
clinvar
214
Total 4 4 103 63 41

Highest pathogenic variant AF is 0.0000526

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP