Proband information


Proband id 2542
Systematic Name
(NM_004992.3:)		 c.651_652delTG
Protein name
(NP_004983)		 p.Gly218fs
Alternate systematic Name
(NM_001110792.1:)		 c.687_688delTG
Alternate Protein name
(NP_001104262)		 p.(Gly230Glufs*17)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296627_153296628delCA
Mutation type frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent Exons2-4
Source of DNA blood
Carrier NC
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
Reference The MECP2 gene mutation screening in Rett Syndrome patients from Croatia:Matijevic, T., Knezeviv, J., Barisic, I., Resic, B., Culic, V., Pavelic, J.:Annals New York Academy of Sciences: 17341617

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.651_652delTG p.Gly218fs Female Not Known 1774 :Friez, Michael::
2 c.651_652delTG p.Gly218fs Female Rett syndrome-not certain 2542 The MECP2 gene mutation screening in Rett Syndrome patients from Croatia:Matijevic, T., Knezeviv, J., Barisic, I., Resic, B., Culic, V., Pavelic, J.:Annals New York Academy of Sciences: 17341617