Variant information


Systematic Name
(NM_004992.3:)		 c.906_1138del233insAC
Protein name
(NP_004983)		 p.Ile303_Val380delinsLeu
Alternate systematic Name
(NM_001110792.1:)		 c.942_1174delinsAC
Alternate Protein name
(NP_001104262)		 p.(Ile315_Val392delinsLeu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296141_153296373delinsGT
Mutation type in-frame combined insertion and deletion
Domain TRD, C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.906_1138del233insAC p.Ile303_Val380delinsLeu Female Rett syndrome-not certain 3620 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