Variant information


Systematic Name c.50dupA
Protein name p.Asp17fs
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection SSCP
Extent 80% of MECP2
Number of chromosomes checked 100 chromosomes tested and not found in 100 chromosomes
Carrier status checked Yes
Carrier result not in parents
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation:Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.:Brain & Development: 21300488

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.50dupA p.Asp17fs frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-classical 4789 Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation:Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.:Brain & Development: 21300488