FOXG1 Variant

   CSV explantation text

Variant ID: fm4

Systematic name: c.969delC

Protein name: p.Ser323Argfs*3

Alternate name(s):

Mutation type: frameshift insertion and/or deletion

Domain: Inter domain region

Pathogenicity class: pathogenic variant


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 ~160 aa downstream

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.969delC p.Ser323Argfs*3 Rett syndrome - sporadic Female 18571142, Ariani, F. et al (2008) fp4

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