Proband information


Proband id 3870
Systematic Name
(NM_004992.3:)		 c.1151_1188del38
Protein name
(NP_004983)		 p.Pro384fs
Alternate systematic Name
(NM_001110792.1:)		 c.1187_1224del38
Alternate Protein name
(NP_001104262)		 p.(Pro396Argfs*8)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296091_153296128del38
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 50 chromosomes tested and not found in 50 chromosomes
Detection SSCP
Extent 85% coding sequence
Source of DNA blood
Carrier Y
Carrier result de novo
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Rapid detection of deletions in hotspot c-terminal segment region of MECP2 by routine PCR method: report of two classical Rett syndrome patients of Indian origin:Khajuria, R., Sapra, S., Ghosh, M., Gupta, N., Gulati, S., Kalra, V., Kabra, M.:Genetic Testing and Molecular Biomarkers: 19371229

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1151_1188del38 p.Pro384fs Unknown Rett syndrome-Classical 915 :::
2 c.1151_1188del38 p.Pro384fs Female de novo Rett syndrome-classical 3870 Rapid detection of deletions in hotspot c-terminal segment region of MECP2 by routine PCR method: report of two classical Rett syndrome patients of Indian origin:Khajuria, R., Sapra, S., Ghosh, M., Gupta, N., Gulati, S., Kalra, V., Kabra, M.:Genetic Testing and Molecular Biomarkers: 19371229