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12 variant records found

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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 000206-9986 rabbit Lionhead Dwarf Loh Netherland Dwarf Coat colour, dilute MLPH splicing no c.111-5C>A p.K40* "skipping of exons 3 and 4 was present resulting in altered amino acids at p.QGL[37-39]QWA and a premature stop codon at p.K40*" 2013 24376820
OMIA 000206-9986 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 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%
splicing 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 2 16.7%
2014 0 0.0%
2015 1 8.3%
2016 0 0.0%
2017 1 8.3%