Proband information


Proband id 910
Systematic Name
(NM_004992.3:)
c.905C>T
Protein name
(NP_004983)
p.Pro302Leu
Alternate systematic Name
(NM_001110792.1:)
c.941C>T
Alternate Protein name
(NP_001104262)
p.(Pro314Leu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296374G>A
Mutation type Missense
Domain TRD
Pathogenicity Unknown
Evidence of Pathogenicity
Detection
Extent
Source of DNA
Carrier
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial
Phenotype-class Rett syndrome-Classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.905C>T p.Pro302Leu Unknown Rett syndrome-Classical 910 :::
2 c.905C>T p.Pro302Leu Female Rett syndrome-Not certain 1636 :Bunyan, D.::
3 c.905C>T p.Pro302Leu Female Not Known 1686 :Friez, Michael::
4 c.905C>T p.Pro302Leu Female Rett syndrome-Classical 2174 :Cardiff, UK::
5 c.905C>T p.Pro302Leu Female de novo 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 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