Proband information

Proband id 6623
Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type missense
Domain exon 1
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent all exons
Source of DNA Blood
Carrier N
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
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.-156C>T p.(=) Female de novo Rett syndrome-classical 3864 The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform:Fichou, Y., Nectoux, J., Bahi-Buisson, N., Rosas-Vargas, H., Girard, B., Chelly, J., Bienvenu, T.:Neurogenetics: 19034540
2 c.-156C>T p.(=) Female de novo Rett syndrome-not certain 3867 Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome:Saunders, C.J., Minassian, B.E., Chow, E.W.C., Zhao, W., Vincent, J.B.:Am J Med Genet Part A: 19365833
3 c.-156C>T p.(=) Female Rett syndrome-classical 6623 :::
4 c.-156C>T p.(=) Female Not Rett synd. 6622 :::