Proband information


Proband id 840
Systematic Name
(NM_004992.3:)		 c.464T>C
Protein name
(NP_004983)		 p.Phe155Ser
Alternate systematic Name
(NM_001110792.1:)		 c.500T>C
Alternate Protein name
(NP_001104262)		 p.(Phe167Ser)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296815A>G
Mutation type Missense
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 96 chromosomes tested and not found in 96 chromosomes
Detection SSCP
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Not present in parents
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Classical
Reference Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2:Amir, Ruthie E., Van den Veyver, Ignatia B., Wan, Mimi, Tran, Charles Q., Francke, Uta and Zoghbi, Huda Y.:Nature Genetics: 10508514

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.464T>C p.Phe155Ser Unknown Not present in parents Rett syndrome-Classical 840 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2:Amir, Ruthie E., Van den Veyver, Ignatia B., Wan, Mimi, Tran, Charles Q., Francke, Uta and Zoghbi, Huda Y.:Nature Genetics: 10508514
2 c.464T>C p.Phe155Ser Female Rett syndrome-Not certain 1032 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898