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Link to this search: https://omia.org/results/?search_type=advanced&gb_species_id=9986&result_type=variant&defect=yes&singlelocus=yes&characterised=yes

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.

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
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
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
1521 OMIA:001213-9986 rabbit Emery-Dreifuss muscular dystrophy LMNA missense Base-editing yes p.(L530P) 2022 35282412
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
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
1551 OMIA:002688-9986 rabbit Microcephaly, primary YIPF5 missense Base-editing yes p.(W218R) 2023 37142085
Overall Statistics
Total number of variants 12
Variants with genomic location 4 (33.3% )
Variants in a variant database, i.e. with rs ID 1 (8.3%)
Variant Type Count Percent
deletion, gross (>20) 3 25.0%
deletion, small (<=20) 1 8.3%
duplication 1 8.3%
missense 6 50.0%
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 0 0.0%
2007 0 0.0%
2008 0 0.0%
2009 0 0.0%
2010 0 0.0%
2011 0 0.0%
2012 0 0.0%
2013 0 0.0%
2014 0 0.0%
2015 0 0.0%
2016 0 0.0%
2017 1 8.3%
2018 0 0.0%
2019 0 0.0%
2020 0 0.0%
2021 1 8.3%
2022 3 25.0%
2023 1 8.3%
2024 2 16.7%