Variant information


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

Proband information


Source of DNA NK
Detection NK
Extent NK
Number of chromosomes checked
Carrier status checked Yes
Carrier result found in proband's affected mother and affected aunt, not in two unaffected maternal aunts
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
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