rs587783460, CREBBP

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Rubinstein-Taybi Syndrome
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
0.710 GeneticVariation BEFREE Targeted exome sequencing of the patient DNA revealed de novo transition c.1066C>T corresponding to a novel nonsense mutation p.Q356X in the CREB-binding protein gene, CREBBP, whose haploinsufficiency is responsible for 50% to 60% of the RSTS cases. 26603346 2016
Rubinstein-Taybi Syndrome
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
0.710 CausalMutation CLINVAR