Proband information

Proband id 6613
Systematic Name
c.[401C>G; 1168_1173del6]
Protein name
p.[Ser134Cys; Pro390_Pro391del]
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type missense, in-frame insertion or deletion
Domain MBD, C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent all exons
Source of DNA Blood
Carrier Y
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 Gender Carrier result Phenotype Proband id Reference
1 c.[401C>G; 1168_1173del6] p.[Ser134Cys; Pro390_Pro391del] Female S134C de novo, father has 1165-1170del6 Rett syndrome-classical 6613 :::