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 Yes
Carrier result Mutation not present in unaffected father, mutation present in unaffected mother, mutation not present in unaffected maternal grandfather, mutation present in unaffected maternal grandmother, mutation not present in unaffected maternal aunt, mutation present in both maternal uncles
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Familial
Phenotype-class Not Rett synd.-X-linked mental retardation
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