Proband information


Proband id 4480
Systematic Name
(NM_004992.3:)		 c.752_753dupCC
Protein name
(NP_004983)		 p.Gly252fs
Alternate systematic Name
(NM_001110792.1:)		 c.788_789dupCC
Alternate Protein name
(NP_001104262)		 p.(Gly264Profs*38)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296526_153296527dupGG
Mutation type frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent
Source of DNA Blood
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Not Known
Reference :Das, S., Dempsey, M. U. Chicago::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.752_753dupCC p.Gly252fs Female Rett syndrome-Not certain 1112 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.752_753dupCC p.Gly252fs Male Not Known 2047 :::
3 c.752_753dupCC p.Gly252fs Female Not Known 4480 :Das, S., Dempsey, M. U. Chicago::