Proband information


Proband id 2002
Systematic Name
(NM_004992.3:)		 c.[992_994delAGA; 1029delG; 1061G>T; 1167_1200del34]
Protein name
(NP_004983)		 p.[Lys331del; Arg344fs]
Alternate systematic Name
(NM_001110792.1:)		 c.[1028_1030delAGA;1065delG;1097G>T;1203_1236del34]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296285_153296287delTCT;153296250delC;153296218C>A;153296079_153296112del34]
Mutation type In-frame insertion or deletion, frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Unaffected father carrier of p.R354L, neither parent has other variations
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Not Known
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.[992_994delAGA; 1029delG; 1061G>T; 1167_1200del34] p.[Lys331del; Arg344fs] Female Unaffected father carrier of p.R354L, neither parent has other variations Not Known 2002 Unusual observations associated with novel C-terminal MECP2 mutations:Konrad Oexle, Barbara Thamm-Mücke, Andrea Bier, Sigrid Tinschert::