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7 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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1119 OMIA000201-10141 domestic guinea pig Recessive black Asip deletion, small (<=20) Naturally occurring variant no c.181_184delTTCA MH026115: c.181_184delTTCA; the deletion leads to a truncated protein of 77 amino acids due to the premature stop codon. 2019 30746725
1176 OMIA000168-10141 domestic guinea pig Cataract Cryz splicing Naturally occurring variant yes "a 102-bp deletion towards the 3' end of the coding region. This deletion does not interfere with the reading frame but results in a protein 34 amino acids shorter." (Rodriguez et al., 1992) 1992 1390943
982 OMIA000439-10141 domestic guinea pig Long hair Fgf5 nonsense (stop-gain) Naturally occurring variant no c.403C>T p.(R135*) "The data were submitted to the European Variation Archive (accession no. PRJEB24997)" 2018 29603294
249 OMIA000625-10141 domestic guinea pig Mannosidosis, alpha Man2b1 missense Naturally occurring variant yes c.679C>T p.(R227W) 2002 11959458
1007 OMIA001199-10141 domestic guinea pig Brown coat colour MC1R e (MC1R*4) deletion, gross (>20) Naturally occurring variant no Vidal (2018): "a deletion of 2760 bp, including the entire MC1R coding region" 2018 30101449
1006 OMIA001199-10141 domestic guinea pig Brown coat colour MC1R e (MC1R*2) missense Naturally occurring variant no c.749T>C p.(L250Q) 2018 30101449
1004 OMIA000202-10141 domestic guinea pig Coat colour, albinism Tyr missense Naturally occurring variant no c.710A>G p.(D237G) PRJEB26285 2018 29947431
Overall Statistics
Total number of variants 7
Variants with genomic location 0 (0.0% )
Variants in a variant database, i.e. with rs ID 1 (14.3%)
Variant Type Count Percent
deletion, gross (>20) 1 14.3%
deletion, small (<=20) 1 14.3%
missense 3 42.9%
nonsense (stop-gain) 1 14.3%
splicing 1 14.3%
Year First Reported Count Percent
1992 1 14.3%
1993 0 0.0%
1994 0 0.0%
1995 0 0.0%
1996 0 0.0%
1997 0 0.0%
1998 0 0.0%
1999 0 0.0%
2000 0 0.0%
2001 0 0.0%
2002 1 14.3%
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 4 57.1%
2019 1 14.3%