FOXG1 Proband Entry



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Entry ID: fp1

Systematic name: c.974_975insA

Protein name: p.Ser326Glufs*129

Alternate name(s):

Mutation type: frameshift insertion and/or deletion

Domain: Inter domain region

Pathogenicity class: likely pathogenic variant

Gender: Male

Phenotype: Not Rett syndrome - sporadic

Other mutation: N

Chromosomal abnormality: Not known

Method of testing: direct

Source of DNA: not stated

Familial testing: absent in father, mosaic in mother (35.6% leukocytes, 9.7% in fibroblasts)

Control screening:

dbSNP ID:

Source: Diebold, B., Delepine, C., Nectoux, J., Bahi-Buisson, N., Parent, P., Bienvenu, T. (2014) Somatic mosaicism for a FOXG1 mutation: diagnostic implication.. Clinical Genetics 85:589-591. Pubmed ID: 24766421

Publication ID:

Comments:

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

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There are no other entries in the database with a similar genotype.