rs121908987
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
T
0.800
CausalMutation
CLINVAR
CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.
14722619
2004
rs121908987
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
T
0.800
CausalMutation
CLINVAR
Identification of a gene responsible for familial Wolff-Parkinson-White syndrome.
11407343
2001
rs121908987
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
T
0.800
CausalMutation
CLINVAR
Transgenic mouse model of ventricular preexcitation and atrioventricular reentrant tachycardia induced by an AMP-activated protein kinase loss-of-function mutation responsible for Wolff-Parkinson-White syndrome.
15611370
2005
rs121908987
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
T
0.800
CausalMutation
CLINVAR
CRISPR correction of the PRKAG2 gene mutation in the patient's induced pluripotent stem cell-derived cardiomyocytes eliminates electrophysiological and structural abnormalities.
28917552
2018
rs121908987
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
T
0.800
CausalMutation
CLINVAR
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.
11827995
2002
rs121908989
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
A
0.800
CausalMutation
CLINVAR
rs28938173
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
T
0.800
CausalMutation
CLINVAR
rs267606976
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
G
0.700
CausalMutation
CLINVAR
rs267606977
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
C
0.700
CausalMutation
CLINVAR
rs267606978
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
G
0.700
CausalMutation
CLINVAR
rs267606979
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
G
0.700
CausalMutation
CLINVAR
rs587776643
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CTAA
0.700
CausalMutation
CLINVAR
rs121908987
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
0.800
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017
rs121908987
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
0.800
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs121908987
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
0.800
GeneticVariation
UNIPROT
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
25173338
2014
rs121908987
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
0.800
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs121908987
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
0.800
GeneticVariation
UNIPROT
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).
21267010
2011
rs121908987
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
0.800
GeneticVariation
UNIPROT
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.
11827995
2002
rs121908987
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
0.800
GeneticVariation
UNIPROT
Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.
11371514
2001
rs121908989
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
0.800
GeneticVariation
UNIPROT
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
25173338
2014
rs121908989
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
0.800
GeneticVariation
UNIPROT
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).
21267010
2011
rs121908989
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
0.800
GeneticVariation
UNIPROT
Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.
11371514
2001
rs121908989
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
0.800
GeneticVariation
UNIPROT
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.
11827995
2002
rs121908989
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
0.800
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs121908989
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
0.800
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013