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GENATLAS PHENOTYPE

last update : 13/07/2006

Symbol	CMD1D
Location	1q32
HGNC id	2104
Name	cardiomyopathy, dilated 1D
Corresponding gene	TNNT2
Other symbol(s)	DCCD1,CMPD2
Main clinical features	conduction system defect
Genetic determination	autosomal dominant
Function/system disorder	cardiovascular
	neuromuscular
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense			R141W, mostly frequent