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Link to this search: https://omia.org/results/?gb_species_id=9544&result_type=variant&search_type=advanced
19 variant records found |
[show instead phene records] |
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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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 | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 21 | OMIA:001089-9544 | Rhesus monkey | Antigen A | ABO | haplotype | Naturally occurring variant | Not currently ISAG evaluated | p.266L + p.268G | Allele A is reflected in the peptide haplotype p.266Leu + p.268Gly | 1998 | 9583803 | |||||||||
| 1174 | OMIA:001089-9544 | Rhesus monkey | Antigen B | ABO | haplotype | Naturally occurring variant | Not currently ISAG evaluated | p.266M + p.268A | Allele B is a reflection of the peptide haplotype p.266Met + p.268Ala | 1998 | 9583803 | |||||||||
| 1131 | OMIA:002216-9544 | Rhesus monkey | Bardet-Biedl syndrome 7 | BBS7 | deletion, small (<=20) | Naturally occurring variant | Not currently ISAG evaluated | Mmul_8.0.1 | c.160delG | p.(A54fs) | 2019 | 31589838 | ||||||||
| 1340 | OMIA:002386-9544 | Rhesus monkey | OKT4 epitope deficiency | CD4 | missense | Naturally occurring variant | Not currently ISAG evaluated | 11 | c.C793T | p.(A265W) | 2021 | 33893743 | ||||||||
| 517 | OMIA:000578-9544 | Rhesus monkey | Krabbe disease | GALC | deletion, small (<=20) | Naturally occurring variant | Not currently ISAG evaluated | c.387delAC | 1997 | 9192853 | ||||||||||
| 331 | OMIA:001348-9544 | Rhesus monkey | Atrichia with papular lesions | HR | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | MMUL_1 | 8 | g.22046679C>T | c.1831C>T | p.(R611*) | 2002 | 11831740 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||||
| 1556 | OMIA:000499-9544 | Rhesus monkey | Hypercholesterolaemia | LDLR | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | 19 | p.(W284*) | G>A in exon 6 in position 914 of the human cDNA resulting in p.(W284*) | 1990 | 2326270 | ||||||||
| 1557 | OMIA:000499-9544 | Rhesus monkey | Hypercholesterolaemia | LDLR | missense | Naturally occurring variant | Not currently ISAG evaluated | 19 | c.245G>A | p.(C82Y) | 2023 | 37186395 | ||||||||
| 1646 | OMIA:002804-9544 | Rhesus monkey | Germline mutation rate | MBD4 | deletion, small (<=20) | Naturally occurring variant | Not currently ISAG evaluated | MMul10 | 2 | g.147059371del | c.984del | p.I330Sfs*2 | ENSMMUG00000012723 | 2023 | 37984997 | |||||
| 1014 | OMIA:002145-9544 | Rhesus monkey | Colorectal cancer, MLH1-related | MLH1 | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | 2 | c.1029C<G | p.(Y343*) | Dray et al. (2018): "a de novo stop codon in the coding region of MLH1. This de novo stop codon occurs in exon 11 out of 19 in the MLH1 gene, and thus would produce a dramatically truncated and possibly non-functional protein". Ozirmak Lermi et al. (2022) reported the c. and p. coordinates of this variant. | 2018 | 30108684 | |||||||
| 1013 | OMIA:002145-9544 | Rhesus monkey | Colorectal cancer, hereditary nonpolyposis, MLH1-related | MLH1 | deletion, small (<=20) | Naturally occurring variant | Not currently ISAG evaluated | 2 | g.99561829_99561830del | Brammer et al. (2018): "a heterozygous deletion in the putative promoter region of the MLH1 gene (rheMac2: 2:99,561,829– 99,561,830; hg19: ∼3:37,034,780; c.−258_259)" | 2018 | 29490919 | ||||||||
| 1015 | OMIA:002160-9544 | Rhesus monkey | Colorectal cancer, hereditary nonpolyposis, MSH6-related | MSH6 | missense | Naturally occurring variant | Not currently ISAG evaluated | Dray et al. (2018): "a heterozygous missense mutation in MSH6 that has a CADD score of 22.8, indicating that it would be among the <1% most deleterious mutations possible in the human genome (if that variant occurred in the human MSH6 gene" | 2018 | 30108684 | ||||||||||
| 1602 | OMIA:002130-9544 | Rhesus monkey | Coat colour, oculocutaneous albinism | OCA2 | missense | Naturally occurring variant | Not currently ISAG evaluated | c.2363C>T | p.(S788L) | 2020 | 32259106 | |||||||||
| 1022 | OMIA:002163-9544 | Rhesus monkey | Cone dystrophy 4, PDE6C-related | PDE6C | missense | Naturally occurring variant | Not currently ISAG evaluated | Mmul_8.0.1 | 9 | p.(R565Q) | 2019 | 30667376 | ||||||||
| 1599 | OMIA:000202-9544 | Rhesus monkey | Coat colour, golden | TYR | missense | Naturally occurring variant | Not currently ISAG evaluated | 14 | p.(H256Q) | 2023 | 37522525 | |||||||||
| 1600 | OMIA:000202-9544 | Rhesus monkey | Coat colour, oculocutaneous albinism | TYR | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | 14 | c.552C>A | p.(S184*) | 2000 | 10751629 | ||||||||
| 1601 | OMIA:000202-9544 | Rhesus monkey | Coat colour, oculocutaneous albinism | TYR | missense | Naturally occurring variant | Not currently ISAG evaluated | 14 | c.934C>A | p.(L312I) | 2020 | 32259106 | ||||||||
| 1598 | OMIA:001249-9544 | Rhesus monkey | Coat colour, golden | TYRP1 | missense | Naturally occurring variant | Not currently ISAG evaluated | 15 | p.(L415P) | 2023 | 37522525 | |||||||||
| 1597 | OMIA:001249-9544 | Rhesus monkey | Coat colour, golden | TYRP1 | missense | Naturally occurring variant | Not currently ISAG evaluated | 15 | p.(N343G) | 2023 | 37522525 |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
| Overall Statistics | |
|---|---|
| Total number of variants | 19 |
| Variants with genomic location | 4 (21.1% ) |
| Variants in a variant database, i.e. with rs ID | 0 (0.0%) |
| Variant Type | Count | Percent |
|---|---|---|
| deletion, small (<=20) | 4 | 21.1% |
| haplotype | 2 | 10.5% |
| missense | 9 | 47.4% |
| nonsense (stop-gain) | 4 | 21.1% |
| Variant Effect | Count | Percent |
|---|---|---|
| unknown | 19 | 100.0% |
| Year First Reported | Count | Percent |
|---|---|---|
| 1990 | 1 | 5.3% |
| 1991 | 0 | 0.0% |
| 1992 | 0 | 0.0% |
| 1993 | 0 | 0.0% |
| 1994 | 0 | 0.0% |
| 1995 | 0 | 0.0% |
| 1996 | 0 | 0.0% |
| 1997 | 1 | 5.3% |
| 1998 | 2 | 10.5% |
| 1999 | 0 | 0.0% |
| 2000 | 1 | 5.3% |
| 2001 | 0 | 0.0% |
| 2002 | 1 | 5.3% |
| 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 | 0 | 0.0% |
| 2018 | 3 | 15.8% |
| 2019 | 2 | 10.5% |
| 2020 | 2 | 10.5% |
| 2021 | 1 | 5.3% |
| 2022 | 0 | 0.0% |
| 2023 | 5 | 26.3% |