Search Results
Advanced search
Link to this search: https://omia.org/results/?search_type=advanced&gb_species_id=9986&result_type=variant&singlelocus=yes&characterised=yes
24 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 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1134 | OMIA:000201-9986 | rabbit | Black and tan | ASIP | a^t | deletion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | OryCun2.0 | 4 | g.5455408_5466123del | Letko et al. (2020): NC_013672.1:g.5,455,408_5,466,123del | 2020 | 31729778 | ||||||
| 567 | OMIA:000201-9986 | rabbit | New Zealand White (Rabbit) | Black (non-agouti) | ASIP | a | insertion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | UM_NZW_1.0 | 4 | NC_067377.1:g.13094745_13094746insT | NM_001122939.1:c.5_6insA | NP_001116411.1:p.(N2Kfs21*) | Reported by Letko et al. (2020): NM_001122939.1:c.5_6insA, the OryCun2.0 reference genome represents the nonagouti allele. | 2010 | 20004240 | ||
| 549 | OMIA:001079-9986 | rabbit | Flemish Giant (Rabbit) New Zealand White (Rabbit) | Yellow fat | BCO2 | deletion, small (<=20) | Naturally occurring variant | Not currently ISAG evaluated | 1 | delAAT | 2015 | 26002694 | ||||||||
| 1807 | OMIA:001403-9986 | rabbit | Chronic pancreatitis, susceptibility to | CPA1 | substitution | missense | Base-editing | Not currently ISAG evaluated | OryCun2.0 | 7 | NC_013675.1:g.14267750A>G | XM_008258192.2:c.580T>C | XP_008256414.1:p.(S194P) | published as p.(S282P) based on human coordinates | 2025 | 40383969 | ||||
| 629 | OMIA:000017-9986 | rabbit | Adrenal hyperplasia, congenital | CYP11A1 | deletion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | "a large deletion mutation in the P450scc gene" | 1993 | 7682938 | ||||||||||
| 1806 | OMIA:002964-9986 | rabbit | New Zealand White (Rabbit) | Thrombocytopenia | DUT | substitution | missense | Base-editing | Not currently ISAG evaluated | OryCun2.0 | 17 | NC_013685.1:g.24154696T>C | XM_002717835.3:c.347A>G | XP_002717881.2:p.(Y116C) | Published as c.3020A>G | 2025 | 40362420 | |||
| 1511 | OMIA:002600-9986 | rabbit | New Zealand White (Rabbit) | Amelogenesis imperfecta | FAM83H | deletion, gross (>20) | Genome-editing (CRISPR-Cas9) | Not currently ISAG evaluated | large deletion of more then 900bp in exon 5 | 2022 | 36300761 | |||||||||
| 1575 | OMIA:000439-9986 | rabbit | Angora (Rabbit) | Hair, long | FGF5 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | OryCun2.0 | 15 | g.70103616A>G | c.571T>C | p.(L191S) | XM_008267686.2; XP_008265908.1; published as c.T19234C in exon 2; coordinates in this table are based on a recent reference genome | 2023 | 37268908 | |||
| 689 | OMIA:000299-9986 | rabbit | Dwarf, long-haired Holland Lop (Rabbit) Netherland dwarf (Rabbit) | Dwarfism | HMGA2 | dw | deletion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | 4 | "that the dwarf allele constitutes a ~12.1 kb deletion overlapping the promoter region and first three exons of the HMGA2 gene leading to inactivation of this gene." | 2017 | 27986804 | |||||||
| 449 | OMIA:001160-9986 | rabbit | Hyperlipidaemia | LDLR | deletion, small (<=20) | deletion (in-frame) | Naturally occurring variant | Not currently ISAG evaluated | "an in-frame deletion of 12 nucleotides that eliminates four amino acids from the cysteine-rich ligand binding domain of the LDL receptor" | 1986 | 3010466 | |||||||||
| 450 | OMIA:001566-9986 | rabbit | Rex coat | LIPH | deletion, small (<=20) | Naturally occurring variant | Not currently ISAG evaluated | 14 | c.1362delA | 2011 | 21552526 | |||||||||
| 1521 | OMIA:001213-9986 | rabbit | Emery-Dreifuss muscular dystrophy | LMNA | substitution | missense | Base-editing | Not currently ISAG evaluated | p.(L530P) | 2022 | 35282412 | |||||||||
| 448 | OMIA:001199-9986 | rabbit | California (Rabbit) Champagne-Silberkaninchen, Germany (Rabbit) Checkered Giant Checkered Small Dutch (Rabbit) New Zealand White (Rabbit) White Giant (Rabbit) | Dominant black or Steel | MC1R | E(D) or E(S) | deletion, small (<=20) | Naturally occurring variant | Not currently ISAG evaluated | c.280_285del | 2006 | 16978179 | ||||||||
| 630 | OMIA:001199-9986 | rabbit | Coloured dwarf Dutch (Rabbit) English Lop English Spot (Rabbit) Fauve de Borgogne (Rabbit) Lop Lop dwarf New Zealand Red (Rabbit) Saxon Gold Thüringer (Rabbit) | Red/fawn/yellow | MC1R | e | deletion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | c.304_333del30 | 2006 | 16978179 | ||||||||
| 1160 | OMIA:001199-9986 | rabbit | Angora (Rabbit) Checkered Giant Dutch (Rabbit) Giant Grey Japanese (Rabbit) Rheinische Schecken (Rabbit) | Japanese brindling | MC1R | eJ | haplotype | Naturally occurring variant | Not currently ISAG evaluated | c.[124G>A;125_130del6] | "6 bp-in frame deletion flanked by a G > A transition in 5' (c.[124G>A;125_130del6]) that was present in all animals with Japanese brindling coat colour and pattern." (Fontanesi et al., 2010) | 2010 | 20594318 | |||||||
| 1694 | OMIA:001962-9986 | rabbit | Lionhead Dwarf | Neuronal ceroid lipofuscinosis, 7 | MFSD8 | duplication | frameshift | Naturally occurring variant | Not currently ISAG evaluated | 15 | NC_013683.1:g.103727963_103738667dup | XM_002717263.3:c.202_701dup | XP_002717309.2:p.(E235Lfs*23) | 2024 | 38712841 | |||||
| 932 | OMIA:000031-9986 | rabbit | Lionhead Dwarf Loh Netherland dwarf (Rabbit) | Coat colour, dilute | MLPH | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | OryCun2.0 | NW_003159466.1 | g.549853del | c.586del | p.(E196fs) | NM_001297485.1; NP_001284414.1; published as g.549853delG, c.585delG, p.(L195Lfs*123) - information in this table has been updated to reflect HGVS nomenclature recommendations | 2013 | 24376820 | |||
| 248 | OMIA:000770-9986 | rabbit | Chinchilla (Rabbit) | Tremor, X-linked | PLP1 | pt | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | X | T>A | 1994 | 7525875 | ||||||
| 1709 | OMIA:002865-9986 | rabbit | New Zealand White (Rabbit) | Cerebral palsy, RHOB-related | RHOB | delins, small (<=20) | missense | Genome-editing (CRISPR-Cas9) | Not currently ISAG evaluated | OryCun2.0 | 2 | NC_013670.1:g.169569191_169569192delinsTT | XM_008254781.2:c.218_219delinsTT | XP_008253003.1:p.(S73F) | 2024 | 39080495 | ||||
| 1297 | OMIA:002317-9986 | rabbit | Sauteur d'Alfort | Sauteur | RORB | s^am | substitution | splicing | Naturally occurring variant | Not currently ISAG evaluated | OryCun2.0 | 1 | g.61103503G>A | This variant corresponds to a change from GT to AT in the 5’ donor site of intron 9 (Carneiro et al., 2021) | rs3166922596 | 2021 | 33764968 | |||
| 247 | OMIA:000202-9986 | rabbit | New Zealand White (Rabbit) Zika, Hungary (Rabbit) | Coat colour, albinism | TYR | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | OryCun2.0 | 1 | NC_013669.1:g.127636997G>T | NM_001082077.1:c.1118C>A | NP_001075546.1:p.(T373K) | The OryCun2.0 reference genome is from a white rabbit and reflects the albino coat colour g.127636997T; NM_001082077.1 and NP_001075546.1 reflect the wildtype allele. | 2000 | 10920244 | |||
| 1520 | OMIA:000202-9986 | rabbit | Oculocutaneous albinism | TYR | substitution | missense | Base-editing | Not currently ISAG evaluated | OryCun2.0 | 1 | NC_013669.1:g.127650868T>C | NM_001082077.1:c.973A>G | NP_001075546.1:p.(T325A) | 2022 | 35282412 | |||||
| 1058 | OMIA:001249-9986 | rabbit | Havanna (Rabbit) | Brown | TYRP1 | b | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | OryCun2.0 | 1 | g.41359827C>T | c.570G>A | p.(W190*) | NM_001297495.1; NP_001284424.1; published as g.41360196G>A, c.570G>A, p.Trp190ter but review of the genomic position suggests that the genomic location is OryCun2.0: chr1:41359827C>T | 2014 | 24814776 | ||
| 1551 | OMIA:002688-9986 | rabbit | Microcephaly, primary | YIPF5 | substitution | missense | Base-editing | Not currently ISAG evaluated | p.(W218R) | 2023 | 37142085 |
* 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 | 24 |
| Variants with genomic location | 11 (45.8% ) |
| Variants in a variant database, i.e. with rs ID | 1 (4.2%) |
| Variant Type | Count | Percent |
|---|---|---|
| deletion, gross (>20) | 5 | 20.8% |
| deletion, small (<=20) | 5 | 20.8% |
| delins, small (<=20) | 1 | 4.2% |
| duplication | 1 | 4.2% |
| haplotype | 1 | 4.2% |
| insertion, small (<=20) | 1 | 4.2% |
| substitution | 10 | 41.7% |
| Variant Effect | Count | Percent |
|---|---|---|
| deletion (in-frame) | 1 | 4.2% |
| frameshift | 3 | 12.5% |
| missense | 9 | 37.5% |
| nonsense (stop-gain) | 1 | 4.2% |
| splicing | 1 | 4.2% |
| unknown | 9 | 37.5% |
| Year First Reported | Count | Percent |
|---|---|---|
| 1986 | 1 | 4.2% |
| 1987 | 0 | 0.0% |
| 1988 | 0 | 0.0% |
| 1989 | 0 | 0.0% |
| 1990 | 0 | 0.0% |
| 1991 | 0 | 0.0% |
| 1992 | 0 | 0.0% |
| 1993 | 1 | 4.2% |
| 1994 | 1 | 4.2% |
| 1995 | 0 | 0.0% |
| 1996 | 0 | 0.0% |
| 1997 | 0 | 0.0% |
| 1998 | 0 | 0.0% |
| 1999 | 0 | 0.0% |
| 2000 | 1 | 4.2% |
| 2001 | 0 | 0.0% |
| 2002 | 0 | 0.0% |
| 2003 | 0 | 0.0% |
| 2004 | 0 | 0.0% |
| 2005 | 0 | 0.0% |
| 2006 | 2 | 8.3% |
| 2007 | 0 | 0.0% |
| 2008 | 0 | 0.0% |
| 2009 | 0 | 0.0% |
| 2010 | 2 | 8.3% |
| 2011 | 1 | 4.2% |
| 2012 | 0 | 0.0% |
| 2013 | 1 | 4.2% |
| 2014 | 1 | 4.2% |
| 2015 | 1 | 4.2% |
| 2016 | 0 | 0.0% |
| 2017 | 1 | 4.2% |
| 2018 | 0 | 0.0% |
| 2019 | 0 | 0.0% |
| 2020 | 1 | 4.2% |
| 2021 | 1 | 4.2% |
| 2022 | 3 | 12.5% |
| 2023 | 2 | 8.3% |
| 2024 | 2 | 8.3% |
| 2025 | 2 | 8.3% |