Proband information



Proband id 2163
Systematic Name MECP2_e1: c.21_23dup3
Protein name MeCP2_e1: p.A8dup
Mutation type In-frame insertion or deletion
Domain N-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection Not known
Extent Exons 2-4 (at least)
Source of DNA Blood or skin
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :Cardiff, UK::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 MECP2_e1: c.21_23dup3 MeCP2_e1: p.A8dup In-frame insertion or deletion N-term Unknown Female Not Known 2163 :Cardiff, UK::