Proband information


Proband id 1866
Systematic Name
(NM_004992.3:)		 c.748dupC
Protein name
(NP_004983)		 p.Arg250fs
Alternate systematic Name
(NM_001110792.1:)		 c.784dupC
Alternate Protein name
(NP_001104262)		 p.(Arg262Profs*9)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296531dupG
Mutation type Frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection DHPLC
Extent Exons 2-4
Source of DNA Blood
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Not certain
Reference :Bunyan, D.::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.748dupC p.Arg250fs Female Rett syndrome-Not certain 33 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.748dupC p.Arg250fs Female Rett syndrome-Not certain 1866 :Bunyan, D.::