Proband information

Proband id 4422
Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type nonsense
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Source of DNA Blood
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
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.1357C>T p.Arg453* Female Neither parent is carrier Rett syndrome-Preserved speech 2388 Study of MECP2 Gene in Rett Syndrome Variants and Autistic Girls (See also ):Michele Zappella, Ilaria Meloni, Ilaria Longo, Roberto Canitano, Giuseppe Hayek, Lucia Rosaia, Francesca Mari, and Alessandra Renieri:American Journal of Medical Genetics: 12707946
2 c.1357C>T p.Arg453* Female Not Known 4422 :Das, S., Dempsey, M. U. Chicago::