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Details of mutation DSG2:V920G

Gene	Mutation	DNA change	Protein change	Exon	Locus	Type	Reported Classification	Grantham Score	SIFT	PolyPhen	Domain	Notes	LOVD ID
DSG2	V920G	c.2759T>G	p.Val920Gly	15	18q12	Missense	No known pathogenicity	109	Tolerated	Possibly damaging	Desmoglein repeat 2		DSG2_00055

Clinical reports of this mutation in patients and controls

Article	Article details	Controls	Patient	# Affected Relatives	Notes
Barahona-Dussault et al. Clinical Genetics 2010;77:37-48.	Article details				MAF: 0.4%
Posch et al. Molecular Genetics and Metabolism 2008;95:74-80.	Article details	2/504	fDCM	5	No segregation.
Posch et al. Nature Clinical Practice Cardiovascular Medicine 2008;5(12):E1.	Article details
Syrris et al. European Heart Journal 2007;28:581-8.	Article details	0/400	TFC+	0

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SNP reports

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