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: 2018-06-26 10:41:54
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.