MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 324; N. variants: 57
Disease: Seizures ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs56268439
rs56268439
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0036572
Disease:
Seizures 		0.010 GeneticVariation BEFREE We have identified two mutations in this particular domain (S359P and E397K) in two boys who were screened for MECP2 mutations in a series of 23 mentally handicapped boys fitting the clinical description of the previously reported cases. 11896461 2002