Variant information

Systematic Name c.308G>A
Protein name p.Gly103Asp
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 Yes
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 Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.308G>A p.Gly103Asp missense MBD Unknown Female Rett syndrome-atypical 4395 :Khajuria, R.::