Proband information


Proband id 2003
Systematic Name
(NM_004992.3:)		 c.1061G>T
Protein name
(NP_004983)		 p.Arg354Leu
Alternate systematic Name
(NM_001110792.1:)		 c.1097G>T
Alternate Protein name
(NP_001104262)		 p.(Arg366Leu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296218C>A
Mutation type Missense
Domain C-term
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA Blood
Carrier NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Sporadic
Phenotype-class Not Rett synd.-Unaffected family member
Reference Unusual observations associated with novel C-terminal MECP2 mutations:Konrad Oexle, Barbara Thamm-Mücke, Andrea Bier, Sigrid Tinschert::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1061G>T p.Arg354Leu Male Relative of proband Not Rett synd. 2003 Unusual observations associated with novel C-terminal MECP2 mutations:Konrad Oexle, Barbara Thamm-Mücke, Andrea Bier, Sigrid Tinschert::