Variant information


Systematic Name c.[1053_1054ins10; 1145_1199del55]
Protein name p.Lys352fs
Mutation type in-frame combined insertion and deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result Neither parent has variation, unaffected siblings do not have variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Not certain
Reference Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[1053_1054ins10; 1145_1199del55] p.Lys352fs in-frame combined insertion and deletion C-term Mutation associated with disease Unknown Rett syndrome-Not certain 855 Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042