Variant information


Systematic Name
(NM_004992.3:)
c.710delG
Protein name
(NP_004983)
p.Gly237fs
Alternate systematic Name
(NM_001110792.1:)
c.746delG
Alternate Protein name
(NP_001104262)
p.(Gly249Valfs*11)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296569delC
Mutation type frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.710delG p.Gly237fs 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 View details
2 c.710delG p.Gly237fs 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 View details
3 c.710delG p.Gly237fs 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 View details
4 c.710delG p.Gly237fs 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 View details
5 c.710delG p.Gly237fs Female Rett syndrome-Not certain 1598 :Bunyan, D.:: View details
6 c.710delG p.Gly237fs Female Not Known 1734 :Friez, Michael:: View details
7 c.710delG p.Gly237fs Female Rett syndrome-Not certain 1871 :Bunyan, D.:: View details
8 c.710delG p.Gly237fs Female Rett syndrome-Classical 2093 :Cardiff, UK:: View details
9 c.710delG p.Gly237fs 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 View details
10 c.710delG p.Gly237fs Female Rett syndrome-not certain 4070 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 View details
11 c.710delG p.Gly237fs 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 View details
12 c.710delG p.Gly237fs 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 View details
13 c.710delG p.Gly237fs Female Rett syndrome-classical 6632 ::: View details