OMIA 001473-9915 : Dwarfism, growth-hormone deficiency in Bos indicus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|GH1||Growth hormone 1||Bos indicus||-||no genomic information (-..-)||GH1||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|
|190||Brahman||Dwarfism, growth-hormone deficiency||GH1||missense||Naturally occurring variant||c.641C>T||p.(T200M)||Bos indicus cDNA position based on AF034386, protein position based on AAB92549||2009||19524387||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|2009||McCormack, BL., Chase, CC., Olson, TA., Elsasser, TH., Hammond, AC., Welsh, TH., Jiang, H., Randel, RD., Okamura, CA., Lucy, MC. :|
|A miniature condition in Brahman cattle is associated with a single nucleotide mutation within the growth hormone gene. Domest Anim Endocrinol 37:104-11, 2009. Pubmed reference: 19524387. DOI: 10.1016/j.domaniend.2009.04.001.|
- Created by Imke Tammen2 on 28 Jun 2021
- Changed by Imke Tammen2 on 11 Jul 2021