Proband information


Proband id 2993
Systematic Name
(NM_004992.3:)		 c.[834C>T(;) 965C>T]
Protein name
(NP_004983)		 p.[Ala278Ala(;) Pro322Leu]
Alternate systematic Name
(NM_001110792.1:)		 c.[870C>T;1001C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296445G>A;153296314G>A]
Mutation type silent, missense
Domain TRD, C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype:Chae, J.H., Hwang, H., Hwang, Y.S., Cheong, H.J., Kim, K.J.:Journal of Child Neurology: 15526954

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[834C>T(;) 965C>T] p.[Ala278Ala(;) Pro322Leu] Female Rett syndrome-classical 2993 Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype:Chae, J.H., Hwang, H., Hwang, Y.S., Cheong, H.J., Kim, K.J.:Journal of Child Neurology: 15526954