Variant information


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

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
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 View details
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 View details
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 View details