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Link to this search: https://omia.org/results/?gb_species_id=10036&result_type=variant&search_type=advanced
8 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1076 | OMIA:001645-10036 | golden hamster | Black tremor | Atrn | insertion, gross (>20) | Naturally occurring variant | yes | Kuramoto et al. (2002): "an approximately 10-kb DNA fragment, which had 557-bp direct repeats in both ends and was flanked by the identical 6-bp target duplication sequences, [that] was inserted into exon 24" | 2002 | 11773967 | |||||||||
1491 | OMIA:001643-10036 | golden hamster | duper | Cry1 | deletion, small (<=20) | Naturally occurring variant | unknown | c.578del | p.(P193fs) | published as c.578delC | 2022 | 35471909 | |||||||
1743 | OMIA:002894-10036 | golden hamster | Dcaf17 deficiency | Dcaf17 | deletion, small (<=20) | Genome-editing (CRISPR-Cas9) | yes | BCM_Maur_2.0 | NW_024429189.1:g.39589667_39589671del | XM_040745545.1:c.71_75del | XP_040601479.1:p.(D24Gfs*24) | 2024 | 39239833 | ||||||
559 | OMIA:000439-10036 | golden hamster | Hair, long | Fgf5 | deletion, small (<=20) | Naturally occurring variant | no | c.546delG | p.(R184GfsX6) | 2015 | 26481120 | ||||||||
1711 | OMIA:000284-10036 | golden hamster | Diabetes mellitus, type 2 | Irs2 | deletion, gross (>20) | Genome-editing (CRISPR-Cas9) | yes | 2653-bp deletion in exon 1 | 2024 | 39134590 | |||||||||
385 | OMIA:001401-10036 | golden hamster | Waardenburg syndrome, type 2A | MITF | splicing | Naturally occurring variant | yes | A T>A base substitution in intron 6 of MITF leads to the skipping of exon 7 and a premature termination. | 2003 | 12871913 | |||||||||
651 | OMIA:000162-10036 | golden hamster | Cardiomyopathy, dilated | SGCD | deletion, gross (>20) | Naturally occurring variant | yes | genomic deletion was found to be located at 6.1 kb 5' upstream of the second exon of δ-SG gene, and its 5' upstream region of more than 27.4 kb, including the authentic first exon of δ-SG gene, was deleted | 1997 | 9391120 | |||||||||
652 | OMIA:002211-10036 | golden hamster | Cardiomyopathy, hypertrophic | SGCD | deletion, gross (>20) | Naturally occurring variant | yes | a large deletion in the delta-SG gene | 1997 | 9097966 |
Overall Statistics | |
---|---|
Total number of variants | 8 |
Variants with genomic location | 1 (12.5% ) |
Variants in a variant database, i.e. with rs ID | 0 (0.0%) |
Variant Type | Count | Percent |
---|---|---|
deletion, gross (>20) | 3 | 37.5% |
deletion, small (<=20) | 3 | 37.5% |
insertion, gross (>20) | 1 | 12.5% |
splicing | 1 | 12.5% |
Year First Reported | Count | Percent |
---|---|---|
1997 | 2 | 25.0% |
1998 | 0 | 0.0% |
1999 | 0 | 0.0% |
2000 | 0 | 0.0% |
2001 | 0 | 0.0% |
2002 | 1 | 12.5% |
2003 | 1 | 12.5% |
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 | 1 | 12.5% |
2016 | 0 | 0.0% |
2017 | 0 | 0.0% |
2018 | 0 | 0.0% |
2019 | 0 | 0.0% |
2020 | 0 | 0.0% |
2021 | 0 | 0.0% |
2022 | 1 | 12.5% |
2023 | 0 | 0.0% |
2024 | 2 | 25.0% |