FOXG1 Variant



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Variant ID: fm15

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: 2016-09-30 11:32:21

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.