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12 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.
| OMIA ID(s) | Species Name | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Deleterious? | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| OMIA 000201-9986 | rabbit | Coat colour, agouti | ASIP | insertion, small (<=20) | no | c.5_6insA | 2010 | 20004240 | |||||||||
| OMIA 001079-9986 | rabbit | Yellow fat | BCO2 | deletion, small (<=20) | yes | delAAT | 2015 | 26002694 | |||||||||
| OMIA 000017-9986 | rabbit | Adrenal hyperplasia, congenital | CYP11A1 | deletion, gross (>20) | yes | "a large deletion mutation in the P450scc gene" | 1993 | 7682938 | |||||||||
| OMIA 000299-9986 | rabbit | Dwarfism | HMGA2 | deletion, gross (>20) | yes | "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 | |||||||||
| OMIA 001160-9986 | rabbit | Hyperlipidaemia | LDLR | deletion, small (<=20) | 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 | |||||||||
| OMIA 001566-9986 | rabbit | Rex coat | LIPH | deletion, small (<=20) | no | c.1362delA | 2011 | 21552526 | |||||||||
| OMIA 001199-9986 | rabbit | Coat colour, extension | MC1R | deletion, small (<=20) | no | c.124G>A;125_130del6 | 2006 | 16978179 | |||||||||
| OMIA 001199-9986 | rabbit | Coat colour, extension | MC1R | deletion, gross (>20) | no | c.304_333del30 | 2006 | 16978179 | |||||||||
| OMIA 000031-9986 | rabbit | Lionhead Dwarf Loh Netherland Dwarf | Coat colour, dilute | MLPH | deletion, small (<=20) | no | g.549853delG | c.585delG | p.L195LfsX123* | 2013 | 24376820 | ||||||
| OMIA 000770-9986 | rabbit | Tremor, X-linked | PLP1 | missense | yes | T>A | 1994 | 7525875 | |||||||||
| OMIA 000202-9986 | rabbit | Coat colour, albinism | TYR | missense | yes | OryCun2.0 | 1 | g.127636997C>A | c.1118C>A | p.T373K | 2000 | 10920244 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||||
| OMIA 001249-9986 | rabbit | Brown | TYRP1 | nonsense (stop-gain) | no | 1 | g.41360196G>A | c.570G>A | p.Trp190ter | 2014 | 24814776 |
| Overall Statistics | |
|---|---|
| Total number of variants | 12 |
| Variants with genomic location | 1 (8.3% ) |
| Variants in a variant database, i.e. with rs ID | 0 (0.0%) |
| Variant Type | Count | Percent |
|---|---|---|
| deletion, gross (>20) | 3 | 25.0% |
| deletion, small (<=20) | 5 | 41.7% |
| insertion, small (<=20) | 1 | 8.3% |
| missense | 2 | 16.7% |
| nonsense (stop-gain) | 1 | 8.3% |
| Year First Reported | Count | Percent |
|---|---|---|
| 1986 | 1 | 8.3% |
| 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 | 8.3% |
| 1994 | 1 | 8.3% |
| 1995 | 0 | 0.0% |
| 1996 | 0 | 0.0% |
| 1997 | 0 | 0.0% |
| 1998 | 0 | 0.0% |
| 1999 | 0 | 0.0% |
| 2000 | 1 | 8.3% |
| 2001 | 0 | 0.0% |
| 2002 | 0 | 0.0% |
| 2003 | 0 | 0.0% |
| 2004 | 0 | 0.0% |
| 2005 | 0 | 0.0% |
| 2006 | 2 | 16.7% |
| 2007 | 0 | 0.0% |
| 2008 | 0 | 0.0% |
| 2009 | 0 | 0.0% |
| 2010 | 1 | 8.3% |
| 2011 | 1 | 8.3% |
| 2012 | 0 | 0.0% |
| 2013 | 1 | 8.3% |
| 2014 | 1 | 8.3% |
| 2015 | 1 | 8.3% |
| 2016 | 0 | 0.0% |
| 2017 | 1 | 8.3% |