present in Gene: PRKAR1A;FAM20A
present in Chromosome: 17
Position on Chromosome: 68529891
Alleles of this Variant: TTAGCTTTTTGGTGATTTTATTATAGGGGTCAGCTGCTGT/-
PMID 19293268 2009 Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.