Proband information


Proband id 3096
Systematic Name
(NM_004992.3:)		 c.380C>T
Protein name
(NP_004983)		 p.Pro127Leu
Alternate systematic Name
(NM_001110792.1:)		 c.416C>T
Alternate Protein name
(NP_001104262)		 p.(Pro139Leu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296899G>A
Mutation type missense
Domain MBD
Pathogenicity Unknown
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.380C>T p.Pro127Leu Female Rett syndrome-Preserved speech 291 MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712
2 c.380C>T p.Pro127Leu Female Rett syndrome-Classical 2457 :::
3 c.380C>T p.Pro127Leu Female Rett syndrome-not certain 3096 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
4 c.380C>T p.Pro127Leu Female Rett syndrome-not certain 3426 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
5 c.380C>T p.Pro127Leu Female Rett syndrome-classical 4095 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578