Variant information


Systematic Name
(NM_004992.3:)		 c.[535C>T(;) 763C>T]
Protein name
(NP_004983)		 p.[Pro179Ser(;) Arg255*]
Alternate systematic Name
(NM_001110792.1:)		 c.[571C>T;799C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296744G>A;153296516G>A]
Mutation type missense, nonsense
Domain inter-domain region, TRD
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[535C>T(;) 763C>T] p.[Pro179Ser(;) Arg255*] Female Rett syndrome-classical 4795 A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene:Fendri-Kriaa, N., Hsairi, I., Kifagi, C., Ellouze, E., Mkaouar-Rebai, E., Triki, C., Fakhfakh, F., Tunisian network on mental retardation study:Biochemical and Biophysical Research Communications: 21575601 View details