Variant information


Systematic Name c.1152_1195del44
Protein name p.Pro385fs
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent all exons
Evidence of Pathogenicity
Carrier status checked Yes
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 Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1152_1195del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 1456 Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, HultÚn, Maj:Journal of Molecular Medicine: 11269512
2 c.1152_1195del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 2181 :Cardiff, UK::
3 c.1152_1195del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3609 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
4 c.1152_1195del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 4411 :Das, S., Dempsey, M. U. Chicago::