Variant information


Systematic Name
(NM_004992.3:)		 c.[590C>T(;)916C>T]
Protein name
(NP_004983)		 p.[Thr197Met(;)Arg306Cys]
Alternate systematic Name
(NM_001110792.1:)		 c.[626C>T;952C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296689G>A;153296363G>A]
Mutation type missense
Domain inter-domain region, TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[590C>T(;)916C>T] p.[Thr197Met(;)Arg306Cys] Female Rett syndrome-Classical 4285 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 View details