Variant information

Systematic Name c.413T>C
Protein name p.Leu138Ser
Mutation type missense
Domain MBD
Pathogenicity Unknown

Proband information

Source of DNA blood
Detection direct
Extent 90% coding sequence of MECP2
Number of chromosomes checked 50 chromosomes tested and not found in 50 chromosomes
Carrier status checked N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference :Khajuria, R.::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.413T>C p.Leu138Ser missense MBD Unknown Female Rett syndrome-classical 4394 :Khajuria, R.::