Proband information



Proband id 3381
Systematic Name c.905C>T
Protein name p.Pro302Leu
Mutation type missense
Domain TRD
Pathogenicity Unknown
Detection direct
Extent exons 2-4
Carrier Y
Carrier result de novo
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.905C>T p.Pro302Leu Missense TRD Unknown Unknown Rett syndrome-Classical 910 :::
2 c.905C>T p.Pro302Leu Missense TRD Unknown Female Rett syndrome-Not certain 1636 :Bunyan, D.::
3 c.905C>T p.Pro302Leu Missense TRD Unknown Female Not Known 1686 :Friez, Michael::
4 c.905C>T p.Pro302Leu Missense TRD Unknown Female Rett syndrome-Classical 2174 :Cardiff, UK::
5 c.905C>T p.Pro302Leu missense TRD Unknown 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
6 c.905C>T p.Pro302Leu missense TRD Unknown 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