Variant information


Systematic Name c.[518C>G(;)678delT]
Protein name p.[Pro173Arg(;)Gln227fs]
Mutation type missense
Domain inter-domain, TRD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection direct
Extent all exons
Number of chromosomes checked
Carrier status checked Yes
Carrier result Q227fs de novo, P173R found in unaffected mother
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[518C>G(;)678delT] p.[Pro173Arg(;)Gln227fs] missense inter-domain, TRD Mutation associated with disease Female Rett syndrome-classical 6589 :::