rs121912678
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
T
0.900
CausalMutation
CLINVAR
rs121912679
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
T
0.840
CausalMutation
CLINVAR
rs387906589
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
T
0.820
CausalMutation
CLINVAR
rs387906588
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
T
0.800
CausalMutation
CLINVAR
rs387906588
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
A
0.800
CausalMutation
CLINVAR
rs387906590
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
G
0.800
CausalMutation
CLINVAR
rs387906591
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
A
0.800
CausalMutation
CLINVAR
rs797045135
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
G
0.720
CausalMutation
CLINVAR
rs863224846
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
C
0.710
GeneticVariation
CLINVAR
rs121912680
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
G
0.700
CausalMutation
CLINVAR
rs121912678
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
0.900
GeneticVariation
BEFREE
FOP has been shown to result from a point mutation (c.617G>A ) in the ACVR1 gene in almost all patients reported.
19330033
2009
rs121912678
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
0.900
GeneticVariation
UNIPROT
FOP has been shown to result from a point mutation (c.617G>A ) in the ACVR1 gene in almost all patients reported.
19330033
2009
rs121912678
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
0.900
GeneticVariation
BEFREE
FOP is caused by a recurrent heterozygous activating mutation (c.617G>A; R206H ) of Activin receptor type IA/Activin-like kinase-2 (ACVR1/ALK2), a bone morphogenetic protein (BMP) type I receptor that occurs in all classically affected individuals.
22011642
2012
rs121912678
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
0.900
GeneticVariation
BEFREE
Fibrodysplasia ossificans progressiva is characterized by extensive ossification within muscle tissues, and its molecular pathogenesis is responsible for the constitutively activating mutation (R206H ) of the bone morphogenetic protein type 1 receptor, activin-like kinase 2 (ALK2).
24798338
2014
rs121912678
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
0.900
GeneticVariation
BEFREE
Fibrodysplasia ossificans progressiva (FOP ) patients carry a missense mutation in ACVR1 [617G > A (R206H )] that leads to hyperactivation of BMP-SMAD signaling.
27794120
2016
rs121912678
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
0.900
GeneticVariation
BEFREE
Fibrodysplasia ossificans progressiva (FOP ) patients carry a missense mutation in ACVR1 [617G > A (R206H)] that leads to hyperactivation of BMP-SMAD signaling.
27794120
2016
rs121912678
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
0.900
GeneticVariation
BEFREE
A 617G > A (R206H ) mutation of the activin A type 1 receptor gene (ACVR1) has been found in all previously reported patients with FOP .
18203193
2008
rs121912678
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
0.900
GeneticVariation
BEFREE
A recurrent activating mutation (c.617G→A; R206H ) of activin receptor-like kinase 2 (ACVR1/ALK2), a BMP type I receptor, has been shown as the main cause of FOP .
23861958
2013
rs121912678
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
0.900
GeneticVariation
BEFREE
A recurrent mutation c.617G>A in the ACVR1 gene causes fibrodysplasia ossificans progressiva in two Chinese patients.
19300893
2009
rs121912679
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
0.840
GeneticVariation
UNIPROT
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.
16642017
2006
rs387906589
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
0.820
GeneticVariation
UNIPROT
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.
16642017
2006
rs387906588
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
0.800
GeneticVariation
UNIPROT
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.
16642017
2006
rs387906590
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
0.800
GeneticVariation
UNIPROT
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.
16642017
2006
rs387906591
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
0.800
GeneticVariation
UNIPROT
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.
16642017
2006
rs387906589
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.
16642017
2006