Variant information


Systematic Name c.[=/657-?_1316+?del]
Protein name p.[=/?]
Mutation type in-frame insertion or deletion
Domain TRD
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 Male
Sporadic/Familial familial
Phenotype-class Rett syndrome-male variant
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.[=/657-?_1316+?del] p.[=/?] in-frame insertion or deletion TRD Mutation associated with disease Male Rett syndrome-male variant 4807 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