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
rs387906589
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
Fibrodysplasia (myositis) ossificans progressiva: clinicopathological features and natural history.
8758048
1996
rs121912678
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
0.900
GeneticVariation
BEFREE
We mapped FOP to chromosome 2q23-24 by linkage analysis and identified an identical heterozygous mutation (617G --> A ; R206H ) in the glycine-serine (GS) activation domain of ACVR1, a BMP type I receptor, in all affected individuals examined.
16642017
2006
rs121912678
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
0.900
GeneticVariation
UNIPROT
We mapped FOP to chromosome 2q23-24 by linkage analysis and identified an identical heterozygous mutation (617G --> A ; R206H ) in the glycine-serine (GS) activation domain of ACVR1, a BMP type I receptor, in all affected individuals examined.
16642017
2006
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
rs121912678
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
0.900
GeneticVariation
BEFREE
The 617G>A (R206H ) mutation in the activin receptor type IA (ACVR1) gene has been identified in all examined individuals with FOP of various ethnic groups, including Caucasian and Chinese descents.
17351709
2007
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
rs121912679
×
Entrez Id:
90
Gene Symbol:
ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
0.840
GeneticVariation
BEFREE
A unique mutation of ALK2, G356D , found in a patient with fibrodysplasia ossificans progressiva is a moderately activated BMP type I receptor.
18952055
2008
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
UNIPROT
While the recurrent c.617G>A ; p.R206H mutation was found in all cases of classic FOP and most cases of FOP -plus, novel ACVR1 mutations occur in the FOP variants and two cases of FOP -plus.
19085907
2009