Variant information


Systematic Name
(NM_004992.3:)		 c.[473C>T];[1189G>A]
Protein name
(NP_004983)		 p.[Thr158Met];[Glu397Lys]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type Missense
Domain MBD, C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[473C>T];[1189G>A] p.[Thr158Met];[Glu397Lys] Female Rett syndrome-Atypical 438 ::: View details