Variant information


Systematic Name
(NM_004992.3:)
c.1152_1195del44
Protein name
(NP_004983)
p.Pro385fs
Alternate systematic Name
(NM_001110792.1:)
c.1188_1231del44
Alternate Protein name
(NP_001104262)
p.(Pro397Hisfs*5)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296084_153296127del44
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1152_1195del44 p.Pro385fs 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 View details
2 c.1152_1195del44 p.Pro385fs Female Rett syndrome-Classical 2181 :Cardiff, UK:: View details
3 c.1152_1195del44 p.Pro385fs 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 View details
4 c.1152_1195del44 p.Pro385fs Female Not Known 4411 :Das, S., Dempsey, M. U. Chicago:: View details