Proband information


Proband id 2990
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