Variant information


Systematic Name
(NM_004992.3:)
c.881_902del22
Protein name
(NP_004983)
p.Arg294fs
Alternate systematic Name
(NM_001110792.1:)
c.917_938del22
Alternate Protein name
(NP_001104262)
p.(Arg306Profs*20)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296377_153296398del22
Mutation type frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.881_902del22 p.Arg294fs Female Rett syndrome-not certain 3605 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 View details