Variant information

Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Missense
Domain TRD
Pathogenicity Unknown

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.905C>T p.Pro302Leu Unknown Rett syndrome-Classical 910 ::: View details
2 c.905C>T p.Pro302Leu Female Rett syndrome-Not certain 1636 :Bunyan, D.:: View details
3 c.905C>T p.Pro302Leu Female Not Known 1686 :Friez, Michael:: View details
4 c.905C>T p.Pro302Leu Female Rett syndrome-Classical 2174 :Cardiff, UK:: View details
5 c.905C>T p.Pro302Leu Female Rett syndrome-classical 3381 MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756 View details
6 c.905C>T p.Pro302Leu Female Rett syndrome-not certain 3452 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 View details