Search Results
Advanced search
11 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 required column headers
| 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 |
| Overall Statistics | |
|---|---|
| Total number of variants | 11 |
| Variants with genomic location | 1 (9.1% ) |
| Variants in a variant database, i.e. with rs ID | 0 (0.0%) |
| Variant Type | Count | Percent |
|---|---|---|
| deletion, gross (>20) | 3 | 27.3% |
| deletion, small (<=20) | 5 | 45.5% |
| insertion, small (<=20) | 1 | 9.1% |
| missense | 2 | 18.2% |
| Year First Reported | Count | Percent |
|---|---|---|
| 1986 | 1 | 9.1% |
| 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 | 9.1% |
| 1994 | 1 | 9.1% |
| 1995 | 0 | 0.0% |
| 1996 | 0 | 0.0% |
| 1997 | 0 | 0.0% |
| 1998 | 0 | 0.0% |
| 1999 | 0 | 0.0% |
| 2000 | 1 | 9.1% |
| 2001 | 0 | 0.0% |
| 2002 | 0 | 0.0% |
| 2003 | 0 | 0.0% |
| 2004 | 0 | 0.0% |
| 2005 | 0 | 0.0% |
| 2006 | 2 | 18.2% |
| 2007 | 0 | 0.0% |
| 2008 | 0 | 0.0% |
| 2009 | 0 | 0.0% |
| 2010 | 1 | 9.1% |
| 2011 | 1 | 9.1% |
| 2012 | 0 | 0.0% |
| 2013 | 1 | 9.1% |
| 2014 | 0 | 0.0% |
| 2015 | 1 | 9.1% |
| 2016 | 0 | 0.0% |
| 2017 | 1 | 9.1% |