Fibrodysplasia ossificans progressiva

OMIM:135100
Mode of inheritance:Autosomal dominant
Disease classification:Diseases of the musculoskeletal system and connective tissue

Mutations

Gene Symbol	ACVR1
Reference transcript	NM_001105.4
DNA Change	c.774G>T
A.A. Change	p.Arg258Ser
Exon/Intron	exon 7
Mutation Type	substitution
Reference	Ratbi I, Borcciadi R, Regragui A, Ravazzolo R, Sefiani A.Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva. Clin Rheumatol. 2010 Jan;29(1):119-21.

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