Variant information


Systematic Name
(NM_004992.3:)
c.[502C>T; 1136_1142del7]
Protein name
(NP_004983)
p.Arg168*
Alternate systematic Name
(NM_001110792.1:)
c.[538C>T;1172_1178del7]
Alternate Protein name
(NP_001104262)
p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.[153296777G>A;153296137_153296143del7]
Mutation type nonsense, 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.[502C>T; 1136_1142del7] p.Arg168* Female Rett syndrome-not certain 3853 Multiple de novo mutations in the MECP2 gene:Bunyan, D.J., Robinson, D.O.:Genetics Testing: 18652533 View details