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Link to this search: https://omia.org/results/?gb_species_id=9793&result_type=variant&search_type=advanced
8 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 | Type of Variant | Source of Genetic Variant | Deleterious? | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
149 | OMIA:000201-9793 | ass (donkey) | Âne de Provence, France (Ass) Âne normand, France (Ass) Dezhou, China (Ass) Miniature, United States of America (Ass) | No light points | ASIP | NLP | missense | Naturally occurring variant | no | ASM1607732v2 | 15 | NC_052191.1:g.25406489T>C | XM_044748287.1:c.349T>C | XP_044604222.1:p.(C117R) | The Dezhou reference genome ASM1607732v2 represents the 'no light points' variant: NC_052191.1:g.25406489C |
2015 | 25887951 | ||
347 | OMIA:000439-9793 | ass (donkey) | Âne de Provence, France (Ass) Âne des Pyrénées, France (Ass) Âne grand noir du Berry, France (Ass) Âne normand, France (Ass) | Hair, long | FGF5 | nonsense (stop-gain) | Naturally occurring variant | no | ASM1607732v2 | 3 | NC_052179.1:g.161373495G>A | XM_014836312.2:c.245G>A | XP_014691798.1:p.W82* | 2014 | 25927731 | ||||
560 | OMIA:000439-9793 | ass (donkey) | Âne Bourbonnais, France (Ass) Âne des Pyrénées, France (Ass) Âne normand, France (Ass) Poitou (Ass) | Hair, long | FGF5 | deletion, small (<=20) | Naturally occurring variant | no | ASM1607732v2 | 3 | NC_052179.1:g.161381098_161381099del | XM_014836312.2:c.433_434del | XP_014691798.1:p.M145Vfs*15 | 2014 | 25927731 | ||||
150 | OMIA:000209-9793 | ass (donkey) | Coat colour, dominant white | KIT | W | missense | Naturally occurring variant | no | ASM1607732v2 | 3 | NC_052179.1:g.139882496A>C | XM_014853517.2:c.662A>C | XP_014709003.2:p.(Y221S) | 2015 | 25818843 | ||||
405 | OMIA:001737-9793 | ass (donkey) | Coat colour, white spotting, due to KIT | KIT | Ws | splicing | Naturally occurring variant | no | ASM1607732v2 | 3 | NC_052179.1:g.139911533T>A | XM_014853517.2:c.1978+2T>A | 2015 | 25818843 | |||||
996 | OMIA:001199-9793 | ass (donkey) | Âne de Provence, France (Ass) Âne des Pyrénées, France (Ass) Âne normand, France (Ass) Miniature, United States of America (Ass) | Coat colour, red | MC1R | e | missense | Naturally occurring variant | no | ASM1607732v2 | 28 | NC_052204.1:g.63570188T>C | XM_014836533.2:c.629T>C | XP_014692019.1:p.(M210T) | 2014 | 25155046 | |||
1277 | OMIA:001972-9793 | ass (donkey) | Coat colour, dun | TBX3 | D | insertion, small (<=20) | Naturally occurring variant | no | ASM1607732v2 | 8 | NC_052184.1:42737976_42737977insT | Wang et al. (2020) report 'non-dun' as a "1 bp deletion (chr8:g.42742556 CT>C−) located ~18.6 kb downstream of the transcription start site of the TBX3 gene." The reference genome ASM1607732v2 represents the non-dun allele and information has been changed in the table to report the coordinates for the dun allele [05/06/2024] |
2020 | 33293529 | |||||
151 | OMIA:000202-9793 | ass (donkey) | Coat colour, albinism | TYR | missense | Naturally occurring variant | yes | ASM1607732v2 | 20 | NC_052196.1:58132615G>C | XM_014827959.2:c.616C>G | XP_014683445.2:p.(H206D) | Published as c.604C>G, p.(H202D) - coordinates in the table were updated to reflect the recent reference genome |
2016 | 26763160 |
Overall Statistics | |
---|---|
Total number of variants | 8 |
Variants with genomic location | 8 (100.0% ) |
Variants in a variant database, i.e. with rs ID | 0 (0.0%) |
Variant Type | Count | Percent |
---|---|---|
deletion, small (<=20) | 1 | 12.5% |
insertion, small (<=20) | 1 | 12.5% |
missense | 4 | 50.0% |
nonsense (stop-gain) | 1 | 12.5% |
splicing | 1 | 12.5% |
Year First Reported | Count | Percent |
---|---|---|
2014 | 3 | 37.5% |
2015 | 3 | 37.5% |
2016 | 1 | 12.5% |
2017 | 0 | 0.0% |
2018 | 0 | 0.0% |
2019 | 0 | 0.0% |
2020 | 1 | 12.5% |