Variant: rs1555801872 

    present in Gene: RYR1
    present in Chromosome: 19
    Position on Chromosome: 38572152
    Alleles of this Variant: -/ATGGTGTACTACTTC

rs1555801872 in RYR1 gene and Movement Disorders PMID 16917943 2006 Mutations in RYR1 in malignant hyperthermia and central core disease.

PMID 20583297 2010 Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.

PMID 8661021 1996 The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene.

PMID 16380615 2005 Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.

PMID 18765655 2008 King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene.

PMID 9199552 1997 Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle.

PMID 20839240 2010 RYR1 mutations are a common cause of congenital myopathies with central nuclei.

PMID 23553484 2013 Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.

PMID 23919265 2013 Genotype-phenotype correlations in recessive RYR1-related myopathies.

PMID 4149045 1973 Anesthetic-induced malignant hyperpyrexia in children.

PMID 16163667 2005 Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.

PMID 23394784 2013 Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.

rs1555801872 in RYR1 gene and Muscle hypotonia PMID 16163667 2005 Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.

PMID 20583297 2010 Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.

PMID 16917943 2006 Mutations in RYR1 in malignant hyperthermia and central core disease.

PMID 16380615 2005 Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.

PMID 18765655 2008 King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene.

PMID 9199552 1997 Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle.

PMID 20839240 2010 RYR1 mutations are a common cause of congenital myopathies with central nuclei.

PMID 4149045 1973 Anesthetic-induced malignant hyperpyrexia in children.

PMID 8661021 1996 The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene.

PMID 23394784 2013 Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.

PMID 23919265 2013 Genotype-phenotype correlations in recessive RYR1-related myopathies.

PMID 23553484 2013 Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.