Variant information


Systematic Name
(NM_004992.3:)		 c.398G>T
Protein name
(NP_004983)		 p.Arg133Leu
Alternate systematic Name
(NM_001110792.1:)		 c.434G>T
Alternate Protein name
(NP_001104262)		 p.(Arg145Leu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296881C>A
Mutation type Missense
Domain MBD
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.398G>T p.Arg133Leu Female Rett syndrome-Classical 329 Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091 View details