Variant information


Systematic Name
(NM_004992.3:)		 c.753dupC
Protein name
(NP_004983)		 p.Gly252fs
Alternate systematic Name
(NM_001110792.1:)		 c.789dupC
Alternate Protein name
(NP_001104262)		 p.(Gly264Argfs*7)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296526dupG
Mutation type Frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.753dupC p.Gly252fs Female Rett syndrome-Not certain 369 ::: View details
2 c.753dupC p.Gly252fs Male Not Rett synd. 1199 Rett syndrome: clinical manifestations in males with MECP2 mutations:Ben Zeev, Bruria, Yaron, Yuval, Schanen, N. Carolyn, Wolf, Haika, Brandt, Nathan, Ginot, Nathan, Shomrat, Ruth and Orr-Urtreger, Avi:Journal of Child Neurology: 11913564 View details
3 c.753dupC p.Gly252fs Female Rett syndrome-Classical 1200 Rett syndrome: clinical manifestations in males with MECP2 mutations:Ben Zeev, Bruria, Yaron, Yuval, Schanen, N. Carolyn, Wolf, Haika, Brandt, Nathan, Ginot, Nathan, Shomrat, Ruth and Orr-Urtreger, Avi:Journal of Child Neurology: 11913564 View details
4 c.753dupC p.Gly252fs Female Rett syndrome-Classical 2598 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.":Journal of Human Genetics: 17387578 View details