Variant information


Systematic Name c.1159_1201del43
Protein name p.Pro387fs
Mutation type Frameshift insertion or 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.1159_1201del43 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Not certain 851 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