MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 324; N. variants: 57
Disease: Rett Syndrome, Atypical ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587781033
rs587781033
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C2748910
Disease:
Rett Syndrome, Atypical 		0.010 GeneticVariation BEFREE A novel variant p.T479T has also been identified in a patient with atypical Rett syndrome. 23262346 2013