Variant information

Systematic Name c.[397C>T(;)1061G>T]
Protein name p.[Arg133Cys(;)Arg354Leu]
Mutation type Missense
Domain MBD, C-term
Pathogenicity Mutation associated with disease

Proband information

Source of DNA Blood
Detection direct
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
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 c.[397C>T(;)1061G>T] p.[Arg133Cys(;)Arg354Leu] Missense MBD, C-term Mutation associated with disease Female Not Known 2025 :::