Proband information


Proband id 1140
Systematic Name
(NM_004992.3:)
c.859G>C
Protein name
(NP_004983)
p.Ala287Pro
Alternate systematic Name
(NM_001110792.1:)
c.895G>C
Alternate Protein name
(NP_001104262)
p.(Ala299Pro)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296420C>G
Mutation type Missense
Domain TRD
Pathogenicity Unknown
Evidence of Pathogenicity
Detection
Extent
Source of DNA
Carrier NC
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.859G>C p.Ala287Pro Female Rett syndrome-Not certain 1140 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