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22 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1134 | OMIA:000201-9986 | rabbit | Black and tan | ASIP | a^t | deletion, gross (>20) | Naturally occurring variant | no | 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) | Naturally occurring variant | no | 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 | yes | 1 | delAAT | 2015 | 26002694 | |||||||
| 629 | OMIA:000017-9986 | rabbit | Adrenal hyperplasia, congenital | CYP11A1 | deletion, gross (>20) | Naturally occurring variant | yes | "a large deletion mutation in the P450scc gene" | 1993 | 7682938 | |||||||||
| 1511 | OMIA:002600-9986 | rabbit | New Zealand White (Rabbit) | Amelogenesis imperfecta | FAM83H | deletion, gross (>20) | Genome-editing (CRISPR-Cas9) | yes | large deletion of more then 900bp in exon 5 | 2022 | 36300761 | ||||||||
| 1575 | OMIA:000439-9986 | rabbit | Angora (Rabbit) | Hair, long | FGF5 | missense | Naturally occurring variant | no | 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 | yes | 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) | Naturally occurring variant | yes | "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 | no | 14 | c.1362delA | 2011 | 21552526 | ||||||||
| 1521 | OMIA:001213-9986 | rabbit | Emery-Dreifuss muscular dystrophy | LMNA | missense | Base-editing | yes | 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 | no | 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 | no | 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 | complex rearrangement | Naturally occurring variant | no | 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 | Naturally occurring variant | yes | 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) | Naturally occurring variant | no | 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 | missense | Naturally occurring variant | yes | X | T>A | 1994 | 7525875 | ||||||
| 1709 | OMIA:002865-9986 | rabbit | New Zealand White (Rabbit) | Cerebral palsy, RHOB-related | RHOB | missense | Genome-editing (CRISPR-Cas9) | yes | 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 | splicing | Naturally occurring variant | yes | 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 | missense | Naturally occurring variant | yes | OryCun2.0 | 1 | g.127636997G>T | c.1118C>A | p.(T373K) | NM_001082077.1; NP_001075546.1; 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 | missense | Base-editing | no | OryCun2.0 | 1 | g.127650868T>C | c.973A>G | p.(T325A) | NM_001082077.1; NP_001075546.1 | 2022 | 35282412 | ||||
| 1058 | OMIA:001249-9986 | rabbit | Havanna (Rabbit) | Brown | TYRP1 | b | nonsense (stop-gain) | Naturally occurring variant | no | 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 | missense | Base-editing | yes | p.(W218R) | 2023 | 37142085 |
| Overall Statistics | |
|---|---|
| Total number of variants | 22 |
| Variants with genomic location | 9 (40.9% ) |
| Variants in a variant database, i.e. with rs ID | 1 (4.5%) |
| Variant Type | Count | Percent |
|---|---|---|
| complex rearrangement | 1 | 4.5% |
| deletion, gross (>20) | 5 | 22.7% |
| deletion, small (<=20) | 5 | 22.7% |
| duplication | 1 | 4.5% |
| insertion, small (<=20) | 1 | 4.5% |
| missense | 7 | 31.8% |
| nonsense (stop-gain) | 1 | 4.5% |
| splicing | 1 | 4.5% |
| Year First Reported | Count | Percent |
|---|---|---|
| 1986 | 1 | 4.5% |
| 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 | 4.5% |
| 1994 | 1 | 4.5% |
| 1995 | 0 | 0.0% |
| 1996 | 0 | 0.0% |
| 1997 | 0 | 0.0% |
| 1998 | 0 | 0.0% |
| 1999 | 0 | 0.0% |
| 2000 | 1 | 4.5% |
| 2001 | 0 | 0.0% |
| 2002 | 0 | 0.0% |
| 2003 | 0 | 0.0% |
| 2004 | 0 | 0.0% |
| 2005 | 0 | 0.0% |
| 2006 | 2 | 9.1% |
| 2007 | 0 | 0.0% |
| 2008 | 0 | 0.0% |
| 2009 | 0 | 0.0% |
| 2010 | 2 | 9.1% |
| 2011 | 1 | 4.5% |
| 2012 | 0 | 0.0% |
| 2013 | 1 | 4.5% |
| 2014 | 1 | 4.5% |
| 2015 | 1 | 4.5% |
| 2016 | 0 | 0.0% |
| 2017 | 1 | 4.5% |
| 2018 | 0 | 0.0% |
| 2019 | 0 | 0.0% |
| 2020 | 1 | 4.5% |
| 2021 | 1 | 4.5% |
| 2022 | 3 | 13.6% |
| 2023 | 2 | 9.1% |
| 2024 | 2 | 9.1% |