Proband information


Proband id 1107
Systematic Name
(NM_004992.3:)
c.1079C>A
Protein name
(NP_004983)
p.Ser360*
Alternate systematic Name
(NM_001110792.1:)
c.1115C>A
Alternate Protein name
(NP_001104262)
p.(Ser372*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296200G>T
Mutation type Nonsense
Domain C-term
Pathogenicity Mutation associated with disease
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.1079C>A p.Ser360* Female Rett syndrome-Not certain 1107 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