FOXG1 Proband Entry
Entry ID: fp16
Systematic name: c.730C>T
Protein name: p.Arg244Cys
Alternate name(s):
Mutation type: missense
Domain: Forkhead binding domain
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Rett syndrome - sporadic
Other mutation: N
Chromosomal abnormality: No - normal
Method of testing: direct, MECP2, CDKL5, FOXG1
Source of DNA: blood
Familial testing: de novo
Control screening:
dbSNP ID:
Source: Le Guen, T., Fichou, Y., Nectoux, J., Bahi-Buisson, N., Rivier, F., Boddaert, N., Diebold, B., Heron, D., Chelly, J., Bienvenu, T. (2010) A missense mutation within the fork-head doamin of the forkhead box G1 gene (FOXG1) affects its nuclear localization. Human Mutation 32:E2026-E2035. Pubmed ID: 21280142
Publication ID:
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.