Variant information


Systematic Name
(NM_004992.3:)
c.301C>T
Protein name
(NP_004983)
p.Pro101Ser
Alternate systematic Name
(NM_001110792.1:)
c.337C>T
Alternate Protein name
(NP_001104262)
p.(Pro113Ser)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153297734G>A
Mutation type Missense
Domain MBD
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.301C>T p.Pro101Ser Female Rett syndrome-Classical 1436 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.301C>T p.Pro101Ser Female Not Known 1687 :Friez, Michael:: View details
3 c.301C>T p.Pro101Ser Female Rett syndrome-Not certain 1822 :Bunyan, D.:: View details
4 c.301C>T p.Pro101Ser Female Rett syndrome-Atypical 2169 :Cardiff, UK:: View details