Variant information


Systematic Name
(NM_004992.3:)		 c.[397C>T; 1164_1207del44]
Protein name
(NP_004983)		 p.[Arg133Cys; Pro389*]
Alternate systematic Name
(NM_001110792.1:)		 c.[433C>T;1200_1243del44]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296882G>A;153296072_153296115del44]
Mutation type Missense, frameshift insertion or deletion
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.[397C>T; 1164_1207del44] p.[Arg133Cys; Pro389*] Female Rett syndrome-Atypical 2225 :Cardiff, UK:: View details