Proband information


Proband id 1815
Systematic Name
(NM_004992.3:)
c.753delC
Protein name
(NP_004983)
p.Gly252fs
Alternate systematic Name
(NM_001110792.1:)
c.789delC
Alternate Protein name
(NP_001104262)
p.(Gly264Alafs*37)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296526delG
Mutation type Frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :Friez, Michael::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.753delC p.Gly252fs Female Rett syndrome-Not certain 1111 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
2 c.753delC p.Gly252fs Female Rett syndrome-Not certain 1252 Influence of mutation type and location on phenotype in 123 patients with Rett syndrome:Huppke, P., Held, M., Hanefeld, F., Engel, W., Laccone, F.:Neuropediatrics: 12075485
3 c.753delC p.Gly252fs Female all normal Rett syndrome-classical 1560 :::
4 c.753delC p.Gly252fs Female Not Known 1668 :Friez, Michael::
5 c.753delC p.Gly252fs Female Not Known 1815 :Friez, Michael::
6 c.753delC p.Gly252fs Female Rett syndrome-Classical 2094 :Cardiff, UK::