Proband information


Proband id 3809
Systematic Name
(NM_004992.3:)		 c.660C>T
Protein name
(NP_004983)		 p.Leu220Leu
Alternate systematic Name
(NM_001110792.1:)		 c.696C>T
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296619G>A
Mutation type silent
Domain TRD
Pathogenicity Silent polymorphism
Evidence of Pathogenicity
Detection direct
Extent exons 3 and 4
Source of DNA blood
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-autism
Reference Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorder:Wong, V.C.N., Li, S.Y.H.:Journal of Child Neurology: 18174559

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.660C>T p.Leu220Leu Female Not Rett synd. 3809 Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorder:Wong, V.C.N., Li, S.Y.H.:Journal of Child Neurology: 18174559