MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 324; N. variants: 57
Disease: Epilepsy ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0014544
Disease:
Epilepsy 		0.010 GeneticVariation BEFREE MECP2 mutations most frequently associated with epilepsy were T158M (74%) and R106W (78%), and less frequently R255X and R306C (both 49%). 20231667 2010