Variant information


Systematic Name c.1161_1400del240
Protein name p.Pro388_Pro467del
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Unknown

Proband information


Source of DNA
Detection PCR/diagnostic restriction
Extent Part of exon 4
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Familial
Phenotype-class Not Rett synd.-Unaffected family member
Reference In-frame deletion in MeCP2 causes mild nonspecific mental retardation:Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans:American Journal of Medical Genetics: 11807877

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1161_1400del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Female Not Rett synd. 837 In-frame deletion in MeCP2 causes mild nonspecific mental retardation:Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans:American Journal of Medical Genetics: 11807877
2 c.1161_1400del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Male Not Rett synd. 836 In-frame deletion in MeCP2 causes mild nonspecific mental retardation:Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans:American Journal of Medical Genetics: 11807877
3 c.1161_1400del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Female Not Rett synd. 835 In-frame deletion in MeCP2 causes mild nonspecific mental retardation:Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans:American Journal of Medical Genetics: 11807877
4 c.1161_1400del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Male Not Rett synd. 834 In-frame deletion in MeCP2 causes mild nonspecific mental retardation:Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans:American Journal of Medical Genetics: 11807877
5 c.1161_1400del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Male Not Rett synd. 833 In-frame deletion in MeCP2 causes mild nonspecific mental retardation:Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans:American Journal of Medical Genetics: 11807877