Variant information


Systematic Name c.1151_1188del38
Protein name p.Pro384fs
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection SSCP
Extent 85% coding sequence
Evidence of Pathogenicity 50 chromosomes tested and not found in 50 chromosomes
Carrier status checked Yes
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 Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1151_1188del38 p.Pro384fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Classical 915 :::
2 c.1151_1188del38 p.Pro384fs frameshift insertion or deletion C-term Mutation associated with disease Female 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