Variant information

Systematic Name c.910A>G
Protein name p.Lys304Glu
Mutation type Missense
Domain TRD
Pathogenicity Unknown

Proband information

Source of DNA Blood
Detection direct
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.910A>G p.Lys304Glu Missense TRD Unknown Female Not Known 2015 :::
2 c.910A>G p.Lys304Glu missense TRD Unknown Female Rett syndrome-not certain 3142 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