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5 variant records found

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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.

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 001494-9103 turkey Feather colour, dominant black MC1R missense no c.364A>T p.I122F 2010 20634512
OMIA 001494-9103 turkey Feather colour, black-wing bronze MC1R missense no c.887C>T p.A296V 2010 20634512
OMIA 001494-9103 turkey Bronze feathers MC1R nonsense (stop-gain) no c.96G>A 2010 20634512
OMIA 000380-9103 turkey Commercial lines Feathering, Z-linked PRLR deletion, small (<=20) unknown Melgal5 Z g.9426018_9426022delTTGGT p.Glu726Aspfs*7 2018 29566646
OMIA 000162-9103 turkey Cardiomyopathy, dilated TNNT2 splicing yes delGGGCTCCTC 2002 11886865
Overall Statistics
Total number of variants 5
Variants with genomic location 1 (20.0% )
Variants in a variant database, i.e. with rs ID 0 (0.0%)
Variant Type Count Percent
deletion, small (<=20) 1 20.0%
missense 2 40.0%
nonsense (stop-gain) 1 20.0%
splicing 1 20.0%
Year First Reported Count Percent
2002 1 20.0%
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 3 60.0%
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 1 20.0%