rs1006158872
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
0.700
GeneticVariation
UNIPROT
rs1196161699
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
0.710
GeneticVariation
BEFREE
F104S c-Mpl responds to a transmembrane domain-binding thrombopoietin receptor agonist: proof of concept that selected receptor mutations in congenital amegakaryocytic thrombocytopenia can be stimulated with alternative thrombopoietic agents.
20188141
2010
rs1196161699
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
0.710
GeneticVariation
UNIPROT
rs121913610
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
T
0.700
CausalMutation
CLINVAR
rs121913611
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
T
0.700
CausalMutation
CLINVAR
rs121913612
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
T
0.700
CausalMutation
CLINVAR
rs121913613
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
A
0.700
CausalMutation
CLINVAR
rs121913615
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
T
0.700
CausalMutation
CLINVAR
rs1343123940
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
A
0.700
GeneticVariation
CLINVAR
rs1343123940
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
A
0.700
CausalMutation
CLINVAR
rs1448812001
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
0.700
GeneticVariation
UNIPROT
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.
16470591
2006
rs1448812001
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
0.700
GeneticVariation
UNIPROT
The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.
25538044
2015
rs146249964
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
A
0.700
CausalMutation
CLINVAR
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.
16470591
2006
rs146249964
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
A
0.700
GeneticVariation
CLINVAR
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
24728327
2014
rs146249964
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
A
0.700
CausalMutation
CLINVAR
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
24728327
2014
rs146249964
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
A
0.700
GeneticVariation
CLINVAR
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.
16470591
2006
rs146249964
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
A
0.700
GeneticVariation
CLINVAR
Thrombocytopenia in c-mpl-deficient mice.
8073287
1994
rs146249964
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
A
0.700
GeneticVariation
CLINVAR
A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population.
21489838
2011
rs146249964
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
A
0.700
GeneticVariation
CLINVAR
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.
11133753
2001
rs146249964
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
A
0.700
CausalMutation
CLINVAR
A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population.
21489838
2011
rs148434485
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
T
0.700
CausalMutation
CLINVAR
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.
16470591
2006
rs1553128241
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
A
0.700
GeneticVariation
CLINVAR
rs17292650
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
0.010
GeneticVariation
BEFREE
Here we report unique familial cases of CAMT that presented with a previously unreported <i>MPL</i> mutation: T814C (W272R) in the background of the activating <i>MPL</i> G117T (K39N or Baltimore) mutation.
29296828
2017
rs28928907
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
C
0.800
CausalMutation
CLINVAR
Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics.
18240171
2008
rs28928907
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
C
0.800
CausalMutation
CLINVAR
Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases.
28859041
2018