Proband information


Proband id 2193
Systematic Name
(NM_004992.3:)		 c.730C>T
Protein name
(NP_004983)		 p.Gln244*
Alternate systematic Name
(NM_001110792.1:)		 c.766C>T
Alternate Protein name
(NP_001104262)		 p.(Gln256*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296549G>A
Mutation type Nonsense
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection Not known
Extent Exons 2-4 (at least)
Source of DNA Blood or skin
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Classical
Reference :Cardiff, UK::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.730C>T p.Gln244* 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* Female Rett syndrome-Classical 2192 :Cardiff, UK::
3 c.730C>T p.Gln244* Female Rett syndrome-Classical 2193 :Cardiff, UK::
4 c.730C>T p.Gln244* Female Rett syndrome-classical 6583 :::