FOXG1 Variant



Variant ID: fm12

Systematic name: c.1200C>G

Protein name: p.Tyr400*

Alternate name(s):

Mutation type: nonsense

Domain: JARID1B binding domain

Pathogenicity class: likely pathogenic variant

dbSNP ID:

First reference: Philippe, C., Amsallem, D., Fancannet, C., Lambert, L., Saunier, A., Verneau, F., Jonveaux, P. (2010) Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females. Journal of Medical Genetics 47:59-65. Pubmed ID: 19564653

Comments:

Variant last updated on: 2015-12-02 00:18:24

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.1200C>G p.Tyr400* Rett syndrome - sporadic Female 19564653, Philippe, C et al (2010) fp12

Displaying a total number of 1 proband entries matching this variant.