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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] |
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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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% |