Proband information


Proband id 6996
Systematic Name
(NM_004992.3:)		 c.916C > T
Protein name
(NP_004983)		 p.Arg306Cys
Alternate systematic Name
(NM_001110792.1:)		 c.952C>T
Alternate Protein name
(NP_001104262)		 p.(Arg318Cys)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296363G>A
Mutation type missense
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection
Extent
Source of DNA blood
Carrier
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Rett syndrome-preserved speech
Reference Familial cases and male cases with MECP2 mutations:Qingping Zhang,Ying Zhao , Xinhua Bao,Jinjun Luo, Xiaoying Zhang, Jiarui Li, Liping Wei, Xiru Wu:American Journal of Medical Genetics: 28394482

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.916C > T p.Arg306Cys Female Rett syndrome-preserved speech 6996 Familial cases and male cases with MECP2 mutations:Qingping Zhang,Ying Zhao , Xinhua Bao,Jinjun Luo, Xiaoying Zhang, Jiarui Li, Liping Wei, Xiru Wu:American Journal of Medical Genetics: 28394482