RPS6KA3, ribosomal protein S6 kinase A3, 6197

N. diseases: 315; N. variants: 37
Disease: Coffin-Lowry syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124177
rs398124177
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
CUI: C0265252
Disease:
Coffin-Lowry syndrome 		G 0.700 CausalMutation CLINVAR Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations. 9837815 1998