Proband information


Proband id 3166
Systematic Name
(NM_004992.3:)		 c.982C>G
Protein name
(NP_004983)		 p.Leu328Val
Alternate systematic Name
(NM_001110792.1:)		 c.1018C>G
Alternate Protein name
(NP_001104262)		 p.(Leu340Val)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296297G>C
Mutation type missense
Domain C-term
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.982C>G p.Leu328Val Female Rett syndrome-not certain 3166 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