Variant: rs387906589 

    present in Gene: ACVR1
    present in Chromosome: 2
    Position on Chromosome: 157766004
    Alleles of this Variant: C/A;T

rs387906589 in ACVR1 gene and Brain Stem Glioma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs387906589 in ACVR1 gene and Fibrodysplasia Ossificans Progressiva PMID 22977237 2012 Structure of the bone morphogenetic protein receptor ALK2 and implications for fibrodysplasia ossificans progressiva.

PMID 19085907 2009 Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.

PMID 16642017 2006 A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.

PMID 19330033 2009 We present here evidence for two further unique mutations (c.605G>T and c.983G>A) in this gene in two FOP patients with some atypical digit abnormalities and other clinical features.

rs387906589 in ACVR1 gene and Multiple congenital anomalies PMID 26436010 2015 Clinical and Genetic Analysis of Fibrodysplasia Ossificans Progressiva: A Case Report and Literature Review.

PMID 8758048 1996 Fibrodysplasia (myositis) ossificans progressiva: clinicopathological features and natural history.

PMID 19085907 2009 Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.

PMID 16642017 2006 A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.