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5 variant records found

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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 000698-89462 water buffalo Myotonia CLCN1 splicing yes c.396C>T 2013 23339992
OMIA 001199-89462 water buffalo Coat colour, extension MC1R missense no p.S104G 2010 20596837
OMIA 000214-89462 water buffalo Swamp White spotting MITF nonsense (stop-gain) no c.328C>T p.R110* 2015 26417640
OMIA 000214-89462 water buffalo Swamp White spotting MITF splicing no c.840+2T>A 2015 26417640
OMIA 000202-89462 water buffalo Albinism TYR nonsense (stop-gain) yes c.1431G>A p.W477* 2012 22817390
Overall Statistics
Total number of variants 5
Variants with genomic location 0 (0.0% )
Variants in a variant database, i.e. with rs ID 0 (0.0%)
Variant Type Count Percent
missense 1 20.0%
nonsense (stop-gain) 2 40.0%
splicing 2 40.0%
Year First Reported Count Percent
2010 1 20.0%
2011 0 0.0%
2012 1 20.0%
2013 1 20.0%
2014 0 0.0%
2015 2 40.0%