Proband information


Proband id 2556
Systematic Name
(NM_004992.3:)		 c.-143_-138del6
Protein name
(NP_004983)		 p.(=)
Alternate systematic Name
(NM_001110792.1:)		 c.18_23del6
Alternate Protein name
(NP_001104262)		 p.(Ala7_Ala8del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153363100_153363105del6
Mutation type in-frame insertion or deletion
Domain N-term
Pathogenicity Unknown
Evidence of Pathogenicity 709 chromosomes tested and not found in 709 chromosomes
Detection DHPLC
Extent Exon 1
Source of DNA not specified
Carrier N
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial not known
Phenotype-class Not Rett synd.-non-specific mental retardation
Reference Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.-143_-138del6 p.(=) Female Not Rett synd. 2556 Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659