FOXG1 Proband Entry
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
dbSNP ID:
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
Comments:
Entry last updated on: 2018-06-26 10:38:56
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There are no other entries in the database with a similar genotype.