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: rs122454124
rs122454124
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
CUI: C0265252
Disease:
Coffin-Lowry syndrome 		0.800 GeneticVariation UNIPROT Cardiomyopathy in Coffin-Lowry syndrome. 15214012 2004
dbSNP: rs122454124
rs122454124
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
CUI: C0265252
Disease:
Coffin-Lowry syndrome 		0.800 GeneticVariation UNIPROT Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome. 14986828 2003
dbSNP: rs122454124
rs122454124
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
CUI: C0265252
Disease:
Coffin-Lowry syndrome 		0.800 GeneticVariation UNIPROT Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome. 10528858 1999
dbSNP: rs122454124
rs122454124
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
CUI: C0265252
Disease:
Coffin-Lowry syndrome 		0.800 GeneticVariation UNIPROT Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS). 10094187 1999
dbSNP: rs122454124
rs122454124
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
CUI: C0265252
Disease:
Coffin-Lowry syndrome 		0.800 GeneticVariation UNIPROT Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations. 9837815 1998
dbSNP: rs122454124
rs122454124
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
CUI: C0265252
Disease:
Coffin-Lowry syndrome 		0.800 GeneticVariation UNIPROT Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. 8955270 1996
dbSNP: rs122454124
rs122454124
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
CUI: C0265252
Disease:
Coffin-Lowry syndrome 		A 0.800 CausalMutation CLINVAR