4 variant records found
|[show instead phene records]|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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||OMIA Phene-Species ID(s)||Species Name||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Deleterious?||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1321||OMIA002200-9915||zebu||Brahman Nellore||Darkness of hair coat||ASIP||delins, gross (>20)||Naturally occurring variant||unknown||13||1155-bp deletion followed by an insertion of a transposable element of more than 150 bp that may impact the recruitment of ASIP non-coding exons (Trigo et al.2021)||2021||33910501|
|190||OMIA001473-9915||zebu||Brahman||Dwarfism, growth-hormone deficiency||GH1||missense||Naturally occurring variant||yes||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|
|1350||OMIA001199-9915||zebu||Guzerat||Red||MC1R||deletion, small (<=20)||Naturally occurring variant||no||c.311delT||p.(G104Vfs*)||2021||34555208|
|1351||OMIA001199-9915||zebu||Sahiwal||Red||MC1R||missense||Naturally occurring variant||no||c.844C>A||p.(T281 N)||2021||33512595|
|Total number of variants||4|
|Variants with genomic location||0 (0.0% )|
|Variants in a variant database, i.e. with rs ID||0 (0.0%)|
|deletion, small (<=20)||1||25.0%|
|delins, gross (>20)||1||25.0%|
|Year First Reported||Count||Percent|