FOXG1 Proband Entry

   CSV explantation textc

Entry ID: fp4

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

Gender: Female

Phenotype: Rett syndrome - sporadic

Other mutation: N

Chromosomal abnormality: Not known

Method of testing: DHPLC

Source of DNA: NK

Familial testing: No

Control screening: No


Source: 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

Publication ID: 2


Entry last updated on: 2018-06-26 10:38:56

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