Variant information

Systematic Name MECP2_e1: c.653G>C
Protein name p.Gly218Ala
Mutation type missense
Domain TRD
Pathogenicity Unknown

Proband information

Source of DNA blood
Detection MPS
Number of chromosomes checked
Carrier status checked Yes
Carrier result mother and maternal grandmother were both asymptomatic carriers
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
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.653G>C p.Gly218Ala missense TRD Unknown Female Not Known 6900 :::