Variant information


Systematic Name
(NM_004992.3:)		 c.365T>C
Protein name
(NP_004983)		 p.Val122Ala
Alternate systematic Name
(NM_001110792.1:)		 c.401T>C
Alternate Protein name
(NP_001104262)		 p.(Val134Ala)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297670A>G
Mutation type missense
Domain MBD
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.365T>C p.Val122Ala Male Not Rett synd. 4036 Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome?:McWilliam, C., Cooke, A., Lobo, D., Wanrer, J., Taylor, M., Tolmie, J.L.:Eur J Paediatr Neuro: 19592282 View details
2 c.365T>C p.Val122Ala Female Not Rett synd. 4037 Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome?:McWilliam, C., Cooke, A., Lobo, D., Wanrer, J., Taylor, M., Tolmie, J.L.:Eur J Paediatr Neuro: 19592282 View details
3 c.365T>C p.Val122Ala Female Not Rett synd. 4038 Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome?:McWilliam, C., Cooke, A., Lobo, D., Wanrer, J., Taylor, M., Tolmie, J.L.:Eur J Paediatr Neuro: 19592282 View details