OMIA 002442-9823 : Sperm flagella defect, DNAH17-related in Sus scrofa
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|DNAH17||Sus scrofa||-||no genomic information (-..-)||DNAH17||Ensembl|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1352||Swiss Large White||Sperm flagella defect||DNAH17||deletion, small (<=20)||Naturally occurring variant||Sscrofa11.1||12||g.3556402_3556414del||Nosková et al. (2021): "intronic 13-bp deletion ... causes exon skipping which results in the in-frame loss of 89 amino acids from DNAH17"||2021||33724408|
|2021||Nosková, A., Hiltpold, M., Janett, F., Echtermann, T., Fang, Z.H., Sidler, X., Selige, C., Hofer, A., Neuenschwander, S., Pausch, H. :|
|Infertility due to defective sperm flagella caused by an intronic deletion in DNAH17 that perturbs splicing. Genetics 217:, 2021. Pubmed reference: 33724408. DOI: 10.1093/genetics/iyaa033.|
- Created by Imke Tammen2 on 28 Sep 2021
- Changed by Imke Tammen2 on 28 Sep 2021