MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Severe intellectual disability ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63485860
rs63485860
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0036857
Disease:
Severe intellectual disability 		0.010 GeneticVariation BEFREE The novel missense change, c.617G > C (p.G206A), was present in one autistic male with severe mental retardation and absence of language, and segregates in his maternal family. 17427193 2007
dbSNP: rs28934908
rs28934908
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0036857
Disease:
Severe intellectual disability 		0.010 GeneticVariation BEFREE In a family study, the A140V mutation was found to segregate in the affected daughter and in four adult sons with severe mental retardation. 11007980 2000