Variant information

Systematic Name c.[316C>T(;)917G>T(;)1061G>A]
Protein name p.[Arg106Trp(;)Arg306Leu(;)Arg354His]
Mutation type Missense
Domain MBD, TRD, C-term
Pathogenicity Mutation associated with disease

Proband information

Source of DNA Blood or skin
Detection Not known
Extent Exons 2-4 (at least)
Number of chromosomes checked
Carrier status checked Yes
Carrier result Mother is carrier of R354H variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-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.[316C>T(;)917G>T(;)1061G>A] p.[Arg106Trp(;)Arg306Leu(;)Arg354His] Missense MBD, TRD, C-term Mutation associated with disease Female Rett syndrome-Not certain 2206 :Cardiff, UK::