Proband information
Proband id | 3864 |
---|---|
Systematic Name (NM_004992.3:) |
c.-156C>T |
Protein name (NP_004983) |
p.(=) |
Alternate systematic Name (NM_001110792.1:) |
c.5C>T |
Alternate Protein name (NP_001104262) |
p.(Ala2Val) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153363118G>A |
Mutation type | missense |
Domain | N-term |
Pathogenicity | Unknown |
Evidence of Pathogenicity | 300 chromosomes tested and not found in 300 chromosomes |
Detection | DHPLC |
Extent | all exons |
Source of DNA | blood |
Carrier | Y |
Carrier result | de novo |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-classical |
Reference | 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 |
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 | ::: |