Variant information


Systematic Name c.[378-61C>G; *93G>A]
Protein name intronic variation and 3'UTR variation
Mutation type Intronic variation, 3'UTR variation
Domain Intronic, 3'UTR
Pathogenicity Unknown

Proband information


Source of DNA blood
Detection direct
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Sporadic
Phenotype-class Not Rett synd.-Sporadic mental retardation
Reference MECP2 Mutation Analysis in Patients With Mental Retardation:Tero Ylisaukko-oja, Karola Rehnström, Raija Vanhala, Elli Kempas, Harriet von Koskull, Carola Tengström, Aki Mustonen, Katrin Õunap, Jaana Lähdetie, and Irma Järvelä:American Journal of Medical Genetics: 15578581

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[378-61C>G; *93G>A] intronic variation and 3'UTR variation Intronic variation, 3'UTR variation Intronic, 3'UTR Unknown Male Not Rett synd. 1979 MECP2 Mutation Analysis in Patients With Mental Retardation:Tero Ylisaukko-oja, Karola Rehnström, Raija Vanhala, Elli Kempas, Harriet von Koskull, Carola Tengström, Aki Mustonen, Katrin Õunap, Jaana Lähdetie, and Irma Järvelä:American Journal of Medical Genetics: 15578581