Proband information


Proband id 1979
Systematic Name
(NM_004992.3:)		 c.[378-61C>G; *93G>A]
Protein name
(NP_004983)		 intronic variation and 3'UTR variation
Alternate systematic Name
(NM_001110792.1:)		 c.[414-61C>G;*93G>A]
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296962G>C;153295725C>T]
Mutation type Intronic variation, 3'UTR variation
Domain Intronic, 3'UTR
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier 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 Gender Carrier result Phenotype Proband id Reference
1 c.[378-61C>G; *93G>A] intronic variation and 3'UTR variation 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