FOXG1 Variant



Variant ID: fm3

Systematic name: c.765G>A

Protein name: p.Trp255*

Alternate name(s):

Mutation type: nonsense

Domain: Forkhead binding domain

Pathogenicity class: pathogenic variant

dbSNP ID:

First reference: Ariani, F., Hayek, G., Rondinella, D., Artuso, R., Mencarelli, M.A., Spanhol-Rosseto, A., Pollazzon, M., Buoni, S., Spiga, O., Ricciardi, S., Meloni, I., Longo, I., Mari, F., Broccoli, V., Zappella, M., Renieri, A. (2008) FOXG1 is responsible for the congenital variant of Rett syndrome. American Journal of Human Genetics 83:89-93. Pubmed ID: 18571142

Comments: Deletion of ~200 aa downstream

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.765G>A p.Trp255* Rett syndrome - sporadic Female 18571142, Ariani, F. et al (2008) fp3

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