Proband information


Proband id 2623
Systematic Name
(NM_004992.3:)		 c.1116_1201del86
Protein name
(NP_004983)		 p.His372fs
Alternate systematic Name
(NM_001110792.1:)		 c.1152_1237del86
Alternate Protein name
(NP_001104262)		 p.(His384Glnfs*4)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296078_153296163del86
Mutation type frameshift insertion or deletion
Domain c-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exons 1-4
Source of DNA blood
Carrier Y
Carrier result parents negative
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-Classical
Reference Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1116_1201del86 p.His372fs Female Rett syndrome-Classical 1477 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, Hultén, Maj:Journal of Molecular Medicine: 11269512
2 c.1116_1201del86 p.His372fs Female Rett syndrome-Classical 2099 :Cardiff, UK::
3 c.1116_1201del86 p.His372fs Female parents negative Rett syndrome-Classical 2623 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578