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Dilated Cardiomyopathy (Doberman Pinscher Type Risk Factor, Variant 2)

Dilated Cardiomyopathy (DCM) in Doberman Pinschers, associated with the TTN gene, is a genetic heart disorder that weakens the heart muscle, leading to severe cardiac issues and potential sudden death.

Affected Genes: TTN

Inheritance: Autosomal Dominant With Incomplete Penetrance

Variant(canFam6):
chr36:22343654: C>T

Breed: Doberman Pinscher

General Information:

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Possibly Affected

No Variants Detected: No Effect

Gene / Testing Information:

References:

Meurs KM, Friedenberg SG, Kolb J, Saripalli C, Tonino P, Woodruff K, Olby NJ, Keene BW, Adin DB, Yost OL, DeFrancesco TC, Lahmers S, Tou S, Shelton GD, Granzier HG. A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death. Hum Genet. 2019 138(5):515-524.