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6 variant records found

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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.

OMIA ID(s) Species Name Breed(s) Variant Phenotype Gene Allele Type of Variant Deleterious? Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
OMIA 000201-10141 domestic guinea pig Recessive black Asip deletion, small (<=20) 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
OMIA 000439-10141 domestic guinea pig Long hair Fgf5 nonsense (stop-gain) no c.403C>T p.Arg135* "The data were submitted to the European Variation Archive (accession no. PRJEB24997)" 2018 29603294
OMIA 000625-10141 domestic guinea pig Mannosidosis, alpha Man2b1 missense yes c.679C>T p.R227W 2002 11959458
OMIA 001199-10141 domestic guinea pig Brown coat colour MC1R e (MC1R*4) deletion, gross (>20) no Vidal (2018): "a deletion of 2760 bp, including the entire MC1R coding region" 2018 30101449
OMIA 001199-10141 domestic guinea pig Brown coat colour MC1R e (MC1R*2) missense no c.749T>C p.Leu250Gln 2018 30101449
OMIA 000202-10141 domestic guinea pig Coat colour, albinism Tyr missense no c.710A>G p.Asp237Gly PRJEB26285 2018 29947431
Overall Statistics
Total number of variants 6
Variants with genomic location 0 (0.0% )
Variants in a variant database, i.e. with rs ID 1 (16.7%)
Variant Type Count Percent
deletion, gross (>20) 1 16.7%
deletion, small (<=20) 1 16.7%
missense 3 50.0%
nonsense (stop-gain) 1 16.7%
Year First Reported Count Percent
2002 1 16.7%
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 66.7%
2019 1 16.7%