Variant information


Systematic Name
(NM_004992.3:)		 c.189_190delGA
Protein name
(NP_004983)		 p.Glu63fs
Alternate systematic Name
(NM_001110792.1:)		 c.225_226delGA
Alternate Protein name
(NP_001104262)		 p.(Glu75Aspfs*27)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297845_153297846delTC
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.189_190delGA p.Glu63fs Female Rett syndrome-Classical 2564 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