Variant information


Systematic Name
(NM_004992.3:)		 c.651_652delTG
Protein name
(NP_004983)		 p.Gly218fs
Alternate systematic Name
(NM_001110792.1:)		 c.687_688delTG
Alternate Protein name
(NP_001104262)		 p.(Gly230Glufs*17)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296627_153296628delCA
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.651_652delTG p.Gly218fs Female Not Known 1774 :Friez, Michael:: View details
2 c.651_652delTG p.Gly218fs Female Rett syndrome-not certain 2542 The MECP2 gene mutation screening in Rett Syndrome patients from Croatia:Matijevic, T., Knezeviv, J., Barisic, I., Resic, B., Culic, V., Pavelic, J.:Annals New York Academy of Sciences: 17341617 View details