Variant information


Systematic Name
(NM_004992.3:)
c.[473C>T(;)590C>T]
Protein name
(NP_004983)
p.[Thr158Met(;)Thr197Met]
Alternate systematic Name
(NM_001110792.1:)
c.[509C>T;626C>T]
Alternate Protein name
(NP_001104262)
p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.[153296806G>A;153296689G>A]
Mutation type missense
Domain MBD, inter-domain region
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[473C>T(;)590C>T] p.[Thr158Met(;)Thr197Met] Female Rett syndrome-Classical 4241 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