Variant: rs1555814719 

    present in Gene: PRKAR1A
    present in Chromosome: 17
    Position on Chromosome: 68528954
    Alleles of this Variant: A/G

rs1555814719 in PRKAR1A gene and ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE PMID 22723333 2012 PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance.

PMID 26405036 2015 Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex.

PMID 23425300 2013 Novel mutations of the PRKAR1A gene in patients with acrodysostosis.

PMID 22464252 2012 Exome sequencing identifies PDE4D mutations in acrodysostosis.

PMID 22464250 2012 Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

PMID 21651393 2011 Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance.

PMID 23043190 2012 PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.