Variant information


Systematic Name c.730C>T
Protein name p.Gln244*
Mutation type nonsense
Domain TRD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection direct
Extent all exons
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations
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 Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.730C>T p.Gln244* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 31 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
2 c.730C>T p.Gln244* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2192 :Cardiff, UK::
3 c.730C>T p.Gln244* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2193 :Cardiff, UK::
4 c.730C>T p.Gln244* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6583 :::