Variant information


Systematic Name
(NM_004992.3:)
c.730C>T
Protein name
(NP_004983)
p.Gln244*
Alternate systematic Name
(NM_001110792.1:)
c.766C>T
Alternate Protein name
(NP_001104262)
p.(Gln256*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296549G>A
Mutation type nonsense
Domain TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.730C>T p.Gln244* Female Rett syndrome-Not certain 31 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 View details
2 c.730C>T p.Gln244* Female Rett syndrome-Classical 2192 :Cardiff, UK:: View details
3 c.730C>T p.Gln244* Female Rett syndrome-Classical 2193 :Cardiff, UK:: View details
4 c.730C>T p.Gln244* Female Rett syndrome-classical 6583 ::: View details