Proband information


Proband id 3605
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
Evidence of Pathogenicity
Detection direct
Extent all exons
Source of DNA blood
Carrier Y
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 Gender Carrier result Phenotype Proband id Reference
1 c.881_902del22 p.Arg294fs Female de novo 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