FOXG1 Variant
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
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 ~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.