Proband information


Proband id 3169
Systematic Name
(NM_004992.3:)		 c.382C>T
Protein name
(NP_004983)		 p.Gln128*
Alternate systematic Name
(NM_001110792.1:)		 c.418C>T
Alternate Protein name
(NP_001104262)		 p.(Gln140*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296897G>A
Mutation type nonsense
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection SSCP, direct
Extent Exons 2-4
Source of DNA blood
Carrier
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial not known
Phenotype-class Rett syndrome-not certain
Reference Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.382C>T p.Gln128* Female Rett syndrome-not certain 3169 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
2 c.382C>T p.Gln128* Female Rett syndrome-not certain 4911 Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991