Proband information
Proband id | 3381 |
---|---|
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 | direct |
Extent | exons 2-4 |
Source of DNA | blood or fibroblasts |
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 | 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 |