Proband information


Proband id 854
Systematic Name
(NM_004992.3:)		 c.1123_1191del69
Protein name
(NP_004983)		 p.Ser375_Glu397del
Alternate systematic Name
(NM_001110792.1:)		 c.1159_1227del69
Alternate Protein name
(NP_001104262)		 p.(Ser387_Glu409del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296088_153296156del69
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection
Extent Exons 2-4
Source of DNA blood
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Not certain
Reference Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1123_1191del69 p.Ser375_Glu397del Unknown Rett syndrome-Not certain 854 Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042