Variant information


Systematic Name
(NM_004992.3:)		 c.1161_1400del240
Protein name
(NP_004983)		 p.Pro388_Pro467del
Alternate systematic Name
(NM_001110792.1:)		 c.1197_1436del240
Alternate Protein name
(NP_001104262)		 p.(Pro400_Pro479del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295879_153296118del240
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1161_1400del240 p.Pro388_Pro467del 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 View details
2 c.1161_1400del240 p.Pro388_Pro467del 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 View details
3 c.1161_1400del240 p.Pro388_Pro467del 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 View details
4 c.1161_1400del240 p.Pro388_Pro467del 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 View details
5 c.1161_1400del240 p.Pro388_Pro467del 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 View details