Variant information


Systematic Name
(NM_004992.3:)		 c.[518C>G(;)678delT]
Protein name
(NP_004983)		 p.[Pro173Arg(;)Gln227fs]
Alternate systematic Name
(NM_001110792.1:)		 c.[554C>G;714delT]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296761G>C;153296601delA]
Mutation type missense
Domain inter-domain, TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[518C>G(;)678delT] p.[Pro173Arg(;)Gln227fs] Female Rett syndrome-classical 6589 ::: View details