FOXG1 Variant



Variant ID: fm22

Systematic name: c.159_161dupCCA

Protein name: p.His57dup

Alternate name(s):

Mutation type: in-frame insertion and/or deletion

Domain: Inter domain region

Pathogenicity class: benign variant

dbSNP ID:

First reference: Van der Aa, N., Van den Bergh, M., Ponomarenko, N., Verstraete, L., Ceulemans, B., Storm, K. (2011) Analysis of FOXG1 is highly recommended in male and female patients with Rett syndrome. Molecular Syndromology 1:290-293. Pubmed ID: 22190898

Comments:

Variant last updated on: 2015-12-02 00:19:10

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.159_161dupCCA p.His57dup Not Rett syndrome - sporadic Female 22190898, Van der Aa, N. et al (2011) fp26
c.159_161dupCCA p.His57dup Not Rett syndrome - sporadic Male 22190898, Van der Aa, N. et al (2011) fp27

Displaying a total number of 2 proband entries matching this variant.