MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Intellectual Disability ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61748420
rs61748420
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C3714756
Disease:
Intellectual Disability 		0.020 GeneticVariation BEFREE Targeted next-generation sequencing of a panel of intellectual disability related genes was performed on two unrelated male patients, and two missense variants in MECP2 were identified (p.Gly185Val and p.Arg167Trp). 26490184 2016
dbSNP: rs61748420
rs61748420
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C3714756
Disease:
Intellectual Disability 		0.020 GeneticVariation BEFREE The first mutation, an E137G, was identified in the MRX16 family, and the second, R167W, was identified in a new mental retardation (MR) family shown to be linked to Xq28. 11309367 2001