Variant information


Systematic Name
(NM_004992.3:)		 c.[27-?_1000+?dup(;)1100_1188del89]
Protein name
(NP_004983)		 p.[?(;)His367fs]
Alternate systematic Name
(NM_001110792.1:)		 c.[63_1036dup;1136_1224del89]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296279_153298008dup;153296091_153296179del89]
Mutation type complex rearrangement, frameshift insertion or deletion
Domain MBD, C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[27-?_1000+?dup(;)1100_1188del89] p.[?(;)His367fs] Female Rett syndrome-classical 3855 Multiple de novo mutations in the MECP2 gene:Bunyan, D.J., Robinson, D.O.:Genetics Testing: 18652533 View details