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5 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
18 OMIA001494-9103 turkey Feather colour, dominant black MC1R missense Naturally occurring variant no c.364A>T p.(I122F) 2010 20634512
19 OMIA001494-9103 turkey Feather colour, black-wing bronze MC1R missense Naturally occurring variant no c.887C>T p.(A296V) 2010 20634512
328 OMIA001494-9103 turkey Bronze feathers MC1R nonsense (stop-gain) Naturally occurring variant no c.96G>A 2010 20634512
977 OMIA000380-9103 turkey Feathering, Z-linked PRLR deletion, small (<=20) Naturally occurring variant unknown Turkey_5.1 Z g.9426018_9426022delTTGGT p.(E726Dfs*7) 2018 29566646
397 OMIA000162-9103 turkey Cardiomyopathy, dilated TNNT2 splicing Naturally occurring variant 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%