MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Mental Retardation ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934908
rs28934908
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0025362
Disease:
Mental Retardation 		0.030 GeneticVariation BEFREE In this study, DNA samples from 363 male individuals with syndromic and non-syndromic mental retardation</span> and other psychiatric diseases were screened for A140V (419C>T) mutation in the MECP2 gene, considered the most frequent MECP2 mutation in males. 15814190 2005
dbSNP: rs28934908
rs28934908
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0025362
Disease:
Mental Retardation 		0.030 GeneticVariation BEFREE This strongly suggests that A140V is a hot spot of mutation resulting in moderate to severe MR in males. 11885030 2002
dbSNP: rs28934908
rs28934908
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0025362
Disease:
Mental Retardation 		0.030 GeneticVariation BEFREE The authors recently described a novel A140V MECP2 missense mutation in an Italian family with X-linked semidominant mental retardation. 11805248 2002