Variant information


Systematic Name c.365T>C
Protein name p.Val122Ala
Mutation type missense
Domain MBD
Pathogenicity Unknown

Proband information


Source of DNA wax-embedded tissue
Detection NK
Extent NK
Number of chromosomes checked
Carrier status checked Yes
Carrier result found in proband (son), affected sister, not found in two unaffected sisters
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Not Rett synd.-
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.365T>C p.Val122Ala missense MBD Unknown 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
2 c.365T>C p.Val122Ala missense MBD Unknown 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
3 c.365T>C p.Val122Ala missense MBD Unknown 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