OMIA 002519-9913 : Haplotype with homozygous deficiency BH24, CPT1C-related in Bos taurus
Information about the BH24 haplotype is described in this entry.Mapping: Häfliger et al. (2021) “The BS dataset included 48,807 genotyped animals, with 14,450 trios [trio: sire, dam, and offspring]." The BH24 haplotype was mapped to Chr18:52977041-54113281 (ARSUCD1.2). Molecular basis: Häfliger et al. (2021) “Whole-genome sequencing data of 430 cattle including 70 putative haplotype carriers were mined to identify potential candidate variants that were validated by genotyping the current population using a custom array.”
BH24 Haplotype: CPT1C, chr18:56098048, XM_002695120.5, c.158G>A,p.Gly53AspBreed: Brown Swiss. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CPT1C||carnitine palmitoyltransferase 1C||Bos taurus||18||NC_037345.1 (56092291..56111414)||CPT1C||Homologene, Ensembl, NCBI gene|
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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|
|1418||Brown Swiss||Haplotype with homozygous deficiency BH24||CPT1C||BH24||missense||Naturally occurring variant||ARS-UCD1.2||18||g.56098048G>A||c.158G>A||p.(G53D)||XM_002695120.5||rs719328437||2021||34915862|
|2021||Häfliger, I.M., Seefried, F.R., Spengeler, M., Drögemüller, C. :|
|Mining massive genomic data of two Swiss Braunvieh cattle populations reveals six novel candidate variants that impair reproductive success. Genet Sel Evol 53:95, 2021. Pubmed reference: 34915862. DOI: 10.1186/s12711-021-00686-3.|
- Created by Imke Tammen2 on 14 Jan 2022