Variant information


Systematic Name c.248-?_320+?del (exon 3 deletion)
Protein name p.?
Mutation type in-frame insertion or deletion
Domain MBD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection QPCR
Extent all 4 exons sequenced, exon 3 and 4 QPCR
Number of chromosomes checked
Carrier status checked Yes
Carrier result de novo
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Rett syndrome-classical
Reference Distinct de novo deletions in a brother-sister pair with RTT: a case report:Mittal, K., Gupta, N., Kabra, M., Juyal, R., Thelma, B.K.:American Journal of Medical Genetics B: 21812101

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.248-?_320+?del (exon 3 deletion) p.? in-frame insertion or deletion MBD Mutation associated with disease Female Rett syndrome-classical 4806 Distinct de novo deletions in a brother-sister pair with RTT: a case report:Mittal, K., Gupta, N., Kabra, M., Juyal, R., Thelma, B.K.:American Journal of Medical Genetics B: 21812101