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: rs869320705
rs869320705
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
CUI: C0265252
Disease:
Coffin-Lowry syndrome 		0.710 GeneticVariation BEFREE We detected a C913T (R305X) mutation in a female Coffin-Lowry syndrome patient with drop episodes. 15668050 2005
dbSNP: rs869320705
rs869320705
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
CUI: C0265252
Disease:
Coffin-Lowry syndrome 		A 0.710 CausalMutation CLINVAR