OMIA 001953-9913 : Arthrogryposis, lethal syndrome in Bos taurus |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
PIGH | phosphatidylinositol glycan anchor biosynthesis class H | Bos taurus | 10 | NC_037337.1 (79474713..79466239) | PIGH | Homologene, Ensembl, NCBI gene |
Variants
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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
406 | Belgian Blue | Arthrogryposis, lethal syndrome | PIGH | splicing | Naturally occurring variant | ARS-UCD1.2 | 10 | g.79469727G>C | c.211-10C>G | rs451004237 | rs451004237 | 2015 | 25895751 | Variant information gleaned from or confirmed by Table 1 of  Sharma et al. (2017) Animal Genetics 48(3):369-370 |
Reference
2015 | Sartelet, A., Li, W., Pailhoux, E., Richard, C., Tamma, N., Karim, L., Fasquelle, C., Druet, T., Coppieters, W., Georges, M., Charlier, C. : | |
Genome-wide next-generation DNA and RNA sequencing reveals a mutation that perturbs splicing of the phosphatidylinositol glycan anchor biosynthesis class H gene (PIGH) and causes arthrogryposis in Belgian Blue cattle. BMC Genomics 16:316, 2015. Pubmed reference: 25895751. DOI: 10.1186/s12864-015-1528-y. |
Edit History
- Created by Frank Nicholas on 19 Apr 2015
- Changed by Frank Nicholas on 19 Apr 2015