Variant information


Systematic Name MECP2_e1: c.1453G>C
Protein name p.Glu485Gln
Mutation type missense
Domain C-term
Pathogenicity Unknown

Proband information


Source of DNA blood
Detection MPS
Extent
Number of chromosomes checked
Carrier status checked Yes
Carrier result unaffected mother is a carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial familial
Phenotype-class Not Rett synd.-unaffected family member
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.1453G>C p.Glu485Gln missense C-term Unknown Male Not Rett synd. 6901 :::