Variant information


Systematic Name MECP2_e1: c.638C>T
Protein name p.Ala213Val
Mutation type missense
Domain TRD
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA blood
Detection MPS
Extent
Number of chromosomes checked
Carrier status checked Yes
Carrier result Father carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial familial
Phenotype-class Not Known
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 MECP2_e1: c.638C>T p.Ala213Val missense TRD Polymorphism not causing disease Male Not Known 6898 :::