Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ACVR1

Gene name: activin A receptor, type I
OMIM ID: 102576
Chromosome location: 2q24.1

Mutations

Disease/PhenotypeFibrodysplasia ossificans progressiva
Reference transcriptNM_001105.4
DNA Changec.774G>T
A.A. Changep.Arg258Ser
Exon/Intronexon 7
Mutation Typesubstitution
ReferenceRatbi 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.