Proband information
Proband id | 3620 |
---|---|
Systematic Name (NM_004992.3:) |
c.906_1138del233insAC |
Protein name (NP_004983) |
p.Ile303_Val380delinsLeu |
Alternate systematic Name (NM_001110792.1:) |
c.942_1174delinsAC |
Alternate Protein name (NP_001104262) |
p.(Ile315_Val392delinsLeu) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296141_153296373delinsGT |
Mutation type | in-frame combined insertion and deletion |
Domain | TRD, C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | MLPA |
Extent | all exons |
Source of DNA | blood |
Carrier | Y |
Carrier result | de novo |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-not certain |
Reference | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.906_1138del233insAC | p.Ile303_Val380delinsLeu | Female | de novo | Rett syndrome-not certain | 3620 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |