FOXG1 Proband Entry



   CSV explantation textc


Entry ID: fp12

Systematic name: c.1200C>G

Protein name: p.Tyr400*

Alternate name(s):

Mutation type: nonsense

Domain: JARID1B binding domain

Pathogenicity class: likely pathogenic variant

Gender: Female

Phenotype: Rett syndrome - sporadic

Other mutation: N

Chromosomal abnormality: Not known

Method of testing: direct, MECP2, CDKL5 negative, exons 1-5 FOXG1

Source of DNA: blood

Familial testing: de novo

Control screening: No

dbSNP ID:

Source: Philippe, C., Amsallem, D., Fancannet, C., Lambert, L., Saunier, A., Verneau, F., Jonveaux, P. (2010) Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females. Journal of Medical Genetics 47:59-65. Pubmed ID: 19564653

Publication ID: 2

Comments:

Entry last updated on: 2015-12-02 01:17:53

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