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Link to this search: https://omia.org/results/?gb_species_id=30521&result_type=variant&search_type=advanced
2 variant records found |
[show instead phene records] |
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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 | OMIA Phene-Species ID(s) | Species Name | Breed(s) | Variant Phenotype | Gene | Allele | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 540 | OMIA:001545-30521 | domestic yak | Coat colour, dilution | PMEL | deletion, small (<=20) | Naturally occurring variant | Not currently ISAG evaluated | c.50_52del | p.(L18del) | 2014 | 24989079 | |||||||||
| 845 | OMIA:000483-30521 | domestic yak | Polled, Mongolian allele | POLLED | P[sub]M or P[sub]219ID | complex rearrangement | Naturally occurring variant | Not currently ISAG evaluated | "a complex 219-bp duplication-insertion (P219ID) beginning at 1,976,128 bp and a 7-bp deletion and 6-bp insertion (P1ID) located 621 bp upstream of this position . . . . This rearrangement results in duplication of an 11-bp motif (5'-AAAGAAGCAAA-3') that is entirely conserved among Bovidae . . . and that is also duplicated in the 80-kb duplication responsible for Friesian polledness" | 2017 | 28135247 |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
| Overall Statistics | |
|---|---|
| Total number of variants | 2 |
| Variants with genomic location | 0 (0.0% ) |
| Variants in a variant database, i.e. with rs ID | 0 (0.0%) |
| Variant Type | Count | Percent |
|---|---|---|
| complex rearrangement | 1 | 50.0% |
| deletion, small (<=20) | 1 | 50.0% |
| Variant Effect | Count | Percent |
|---|---|---|
| unknown | 2 | 100.0% |
| Year First Reported | Count | Percent |
|---|---|---|
| 2014 | 1 | 50.0% |
| 2015 | 0 | 0.0% |
| 2016 | 0 | 0.0% |
| 2017 | 1 | 50.0% |