Variant information


Systematic Name c.1159_1160delCCinsT
Protein name p.Pro387fs
Mutation type frameshift combined insertion and deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent entire coding
Number of chromosomes checked
Carrier status checked Yes
Carrier result inherited from mother with cognitive impair
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Rett syndrome-atypical
Reference Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations:Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K.L., Tumer, Z., Nielsen, J.B., Skjeldal, O.H.:Orphanet Journal of Rare Diseases: 21878110

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1159_1160delCCinsT p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Female Not Rett synd. 4773 Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations:Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K.L., Tumer, Z., Nielsen, J.B., Skjeldal, O.H.:Orphanet Journal of Rare Diseases: 21878110
2 c.1159_1160delCCinsT p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Female Rett syndrome-atypical 4774 Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations:Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K.L., Tumer, Z., Nielsen, J.B., Skjeldal, O.H.:Orphanet Journal of Rare Diseases: 21878110
3 c.1159_1160delCCinsT p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Female Not Rett synd. 4775 Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations:Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K.L., Tumer, Z., Nielsen, J.B., Skjeldal, O.H.:Orphanet Journal of Rare Diseases: 21878110
4 c.1159_1160delCCinsT p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Male Rett syndrome-not certain 4776 Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations:Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K.L., Tumer, Z., Nielsen, J.B., Skjeldal, O.H.:Orphanet Journal of Rare Diseases: 21878110