Proband information
Proband id | 2992 |
---|---|
Systematic Name (NM_004992.3:) |
c.836C>T |
Protein name (NP_004983) |
p.Ala279Val |
Alternate systematic Name (NM_001110792.1:) |
c.872C>T |
Alternate Protein name (NP_001104262) |
p.(Ala291Val) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296443G>A |
Mutation type | missense |
Domain | TRD |
Pathogenicity | Unknown |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 2-4 |
Source of DNA | blood |
Carrier | |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-classical |
Reference | Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype:Chae, J.H., Hwang, H., Hwang, Y.S., Cheong, H.J., Kim, K.J.:Journal of Child Neurology: 15526954 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.836C>T | p.Ala279Val | Female | Rett syndrome-classical | 2990 | Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype:Chae, J.H., Hwang, H., Hwang, Y.S., Cheong, H.J., Kim, K.J.:Journal of Child Neurology: 15526954 | |
2 | c.836C>T | p.Ala279Val | Female | Rett syndrome-classical | 2991 | Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype:Chae, J.H., Hwang, H., Hwang, Y.S., Cheong, H.J., Kim, K.J.:Journal of Child Neurology: 15526954 | |
3 | c.836C>T | p.Ala279Val | Female | Rett syndrome-classical | 2992 | Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype:Chae, J.H., Hwang, H., Hwang, Y.S., Cheong, H.J., Kim, K.J.:Journal of Child Neurology: 15526954 |