Variant information


Systematic Name c.[401C>G; 1168_1173del6]
Protein name p.[Ser134Cys; Pro390_Pro391del]
Mutation type missense, in-frame insertion or deletion
Domain MBD, C-term
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 S134C de novo, father has 1165-1170del6
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.[401C>G; 1168_1173del6] p.[Ser134Cys; Pro390_Pro391del] missense, in-frame insertion or deletion MBD, C-term Mutation associated with disease Female Rett syndrome-classical 6613 :::