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Cardiomyopathy, dilated, PLN-related
Breed: Welsh Springer Spaniel
Generic Phene Data
Breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
General
Disease Name
Cardiomyopathy, dilated, PLN-related
OMIA
2195
Gene Name
PLN
Mutation
no test 2020
Mutation 2
g.58588129G>A
Mutation 3
c.26G>A
Mutation 4
p.(R9H)
Test Type
Genetic Disease/Disorder
Published
2019 Yost, O., Friedenberg, S.G., Jesty, S.A., Olby, N.J., Meurs, K.M. : The R9H phospholamban mutation is associated with highly penetrant dilated cardiomyopathy and sudden death in a spontaneous canine model. Gene 697:118-122, 2019. Pubmed reference: 30794913. DOI: 10.1016/j.gene.2019.02.022.
OMIA Url
Inheritance
unknown
Breed Specific Info
Researched Breeds
Welsh Springer Spaniel
HSP Test-Specific Data
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
DCM
Gene Name
PLN
Mutation
c.26G>A
Mutation Comment
g.58588129G>A
No Test/Unknown GTP availability
GTP
Breed
OMIA
Gene Name
PLN
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