{{Rsnum
|rsid=1530498
|Gene=DNAH5
|Chromosome=5
|position=13902111
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.4555
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=DNAH5
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 28.3 | 59.3 | 12.4
| HCB | 6.6 | 35.8 | 57.7
| JPT | 4.4 | 40.7 | 54.9
| YRI | 76.9 | 21.8 | 1.4
| ASW | 64.9 | 33.3 | 1.8
| CHB | 6.6 | 35.8 | 57.7
| CHD | 6.4 | 45.9 | 47.7
| GIH | 50.5 | 45.5 | 4.0
| LWK | 74.5 | 22.7 | 2.7
| MEX | 24.6 | 52.6 | 22.8
| MKK | 65.4 | 31.4 | 3.2
| TSI | 27.5 | 55.9 | 16.7
| HapMapRevision=28
}}{{Venter SNP
|rsid=1530498
|allele=C
|frequency=0.392
|uid=1103654031182
|type=homozygous_SNP
|hugo=DNAH5
|ensembl gene=ENSG00000039139
|ensembl transcript=ENST00000382416
|sift=TOLERATED
|disease=Defects in DNAH5 are the cause of primary ciliary dyskinesia 3 (CILD3) (MIM:608644). CILD3 is characterized by axonemal abnormalities of respiratory cilia and sperm tails leading to bronchiectasis and sinusitis, which are sometimes associated with situs inversus (Kartagener syndrome) and male sterility.
}}

{{GET Evidence
|gene=DNAH5
|aa_change=Thr558Ala
|aa_change_short=T558A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1530498
|overall_frequency_n=3547
|overall_frequency_d=10742
|overall_frequency=0.330199
|n_genomes=32
|n_genomes_annotated=0
|n_haplomes=44
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|pph2_score=0.791
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}