Proband information
Proband id | 4036 |
---|---|
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 |
Evidence of Pathogenicity | |
Detection | NK |
Extent | NK |
Source of DNA | NK |
Carrier | Y |
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 | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.365T>C | p.Val122Ala | Male | found in proband's affected mother and affected aunt, not in two unaffected maternal aunts | 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 | Female | found in proband (nephew), affected sister, not found in two unaffected sisters | 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 | Female | found in proband (son), affected sister, not found in two unaffected sisters | 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 |