Variant information


Systematic Name c.906_1138del233insAC
Protein name p.Ile303_Val380delinsLeu
Mutation type in-frame combined insertion and deletion
Domain TRD, C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection MLPA
Extent all exons
Number of chromosomes checked
Carrier status checked Yes
Carrier result de novo
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.906_1138del233insAC p.Ile303_Val380delinsLeu in-frame combined insertion and deletion TRD, C-term Mutation associated with disease 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