Proband information


Proband id 867
Systematic Name
(NM_004992.3:)		 c.463T>A
Protein name
(NP_004983)		 p.Phe155Ile
Alternate systematic Name
(NM_001110792.1:)		 c.499T>A
Alternate Protein name
(NP_001104262)		 p.(Phe167Ile)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296816A>T
Mutation type Missense
Domain MBD
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.463T>A p.Phe155Ile Unknown Rett syndrome-Not certain 867 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