Variant information

Systematic Name c.155A>G
Protein name p.His52Arg
Mutation type Missense
Domain N-term
Pathogenicity Unknown

Proband information

Source of DNA Blood or skin
Detection Not known
Extent Exons 2-4 (at least)
Number of chromosomes checked
Carrier status checked Not checked
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Rett synd.-not certain
Reference :Cardiff, UK::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.155A>G p.His52Arg Missense N-term Unknown Female Not Rett synd. 2141 :Cardiff, UK::