{{Rsnum
|rsid=3734110
|Gene=DNAH5
|Chromosome=5
|position=13701427
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.4913
|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 | 31.9 | 32.7 | 35.4
| HCB | 39.3 | 43.7 | 17.0
| JPT | 26.5 | 56.6 | 16.8
| YRI | 19.0 | 50.3 | 30.6
| ASW | 15.8 | 59.6 | 24.6
| CHB | 39.3 | 43.7 | 17.0
| CHD | 32.4 | 50.9 | 16.7
| GIH | 28.7 | 48.5 | 22.8
| LWK | 29.4 | 45.9 | 24.8
| MEX | 32.8 | 36.2 | 31.0
| MKK | 34.8 | 46.5 | 18.7
| TSI | 20.6 | 46.1 | 33.3
| HapMapRevision=28
}}{{Venter SNP
|rsid=3734110
|allele=C
|frequency=0.467
|uid=1103654030817
|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=Ile4450Val
|aa_change_short=I4450V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3734110
|overall_frequency_n=5682
|overall_frequency_d=10758
|overall_frequency=0.528165
|n_genomes=44
|n_genomes_annotated=0
|n_haplomes=63
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-4
|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}}