Variant information


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

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
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 View details
2 c.752_753dupCC p.Gly252fs Male Not Known 2047 ::: View details
3 c.752_753dupCC p.Gly252fs Female Not Known 4480 :Das, S., Dempsey, M. U. Chicago:: View details