FOXG1 Proband Entry



   CSV explantation textc


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: 2016-09-30 11:28:42

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