Variant information


Systematic Name c.710delG
Protein name p.Gly237fs
Mutation type frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent exons 2-4
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
Reference Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 1110 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
2 c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1358 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
3 c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1359 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
4 c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1360 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
5 c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 1598 :Bunyan, D.::
6 c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Female Not Known 1734 :Friez, Michael::
7 c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 1871 :Bunyan, D.::
8 c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 2093 :Cardiff, UK::
9 c.710delG p.Gly237fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 3597 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
10 c.710delG p.Gly237fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 4070 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860
11 c.710delG p.Gly237fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 4182 MECP2 mutation in one of Rett's original patients:Fleilinger, M., Berndt, A., Haas, O.A.:Journal of Medicat Genetics: 19724012
12 c.710delG p.Gly237fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 4706 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487
13 c.710delG p.Gly237fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 6632 :::