Variant information


Systematic Name
(NM_004992.3:)		 c.999G>T
Protein name
(NP_004983)		 p.Gly333Gly
Alternate systematic Name
(NM_001110792.1:)		 c.1035G>T
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296280C>A
Mutation type silent
Domain C-term
Pathogenicity Silent polymorphism

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.999G>T p.Gly333Gly Female Rett syndrome-not certain 4755 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 View details