FOXG1 Variant
Systematic name: c.730C>T
Protein name: p.Arg244Cys
Alternate name(s):
Mutation type: missense
Domain: Forkhead binding domain
Pathogenicity class: pathogenic variant
dbSNP ID:
First reference: 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
Comments: in the forkhead binding domain
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.730C>T | p.Arg244Cys | Rett syndrome - sporadic | Female | 21280142, Le Guen, T. et al (2010) | fp16 |
Displaying a total number of 1 proband entries matching this variant.