Proband information

Proband id 4395
Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type missense
Domain MBD
Pathogenicity Unknown
Evidence of Pathogenicity 50 chromosomes tested and not found in 50 chromosomes
Detection direct
Extent 90% coding sequence of MECP2
Source of DNA blood
Carrier Y
Carrier result negative
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-atypical
Reference :Khajuria, R.::

Matching entries in the proband database

No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.308G>A p.Gly103Asp Female negative Rett syndrome-atypical 4395 :Khajuria, R.::