Variant information


Systematic Name c.153C>G
Protein name p.His51Gln
Mutation type missense
Domain N-term
Pathogenicity Unknown

Proband information


Source of DNA blood
Detection SSCP
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 Not Rett synd.-unaffected family member
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.153C>G p.His51Gln missense N-term Unknown Female Not Rett synd. 4393 :Khajuria, R.::
2 c.153C>G p.His51Gln missense N-term Unknown Female Not Rett synd. 4788 Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation:Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.:Brain & Development: 21300488