Proband information


Proband id 36
Systematic Name
(NM_004992.3:)		 c.1012_1202del191
Protein name
(NP_004983)		 p.Thr338fs
Alternate systematic Name
(NM_001110792.1:)		 c.1048_1238del191
Alternate Protein name
(NP_001104262)		 p.(Thr350Profs*3)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296077_153296267del191
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection
Extent
Source of DNA
Carrier
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1012_1202del191 p.Thr338fs Female Rett syndrome-Not certain 36 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