Variant: rs137853303 

    present in Gene: PRKAR1A
    present in Chromosome: 17
    Position on Chromosome: 68522798
    Alleles of this Variant: C/T

rs137853303 in PRKAR1A gene and Carney Complex, Type 1 PMID 18241045 2008 In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay.

PMID 15371594 2004 Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.

PMID 22785148 2012 An unusual presentation of Carney complex with diffuse primary pigmented nodular adrenocortical disease on one adrenal gland and a nonpigmented adrenocortical adenoma and focal primary pigmented nodular adrenocortical disease on the other.

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

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 23323113 2012 Novel Mutation in PRKAR1A in Carney Complex.