FOXG1 Proband Entry



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Entry ID: fp43

Systematic name: c.133_469del337insACCCACCGCCCC

Protein name: p.Pro45Thrfs*39

Alternate name(s):

Mutation type: frameshift insertion and/or deletion

Domain: Inter domain region

Pathogenicity class: pathogenic variant

Gender: Male

Phenotype: Not Rett syndrome - sporadic

Other mutation: NK

Chromosomal abnormality: Not known

Method of testing: direct

Source of DNA:

Familial testing: No

Control screening: No

dbSNP ID:

Source: Seltzer, L.E., Ma, M., Ahmed, S., Bertrand, M., Dobyns, W.B., Wheless, J., Paciorkowski, A.R. (2014) Epilepsy and outcome in FOXG1-related disorders. Epilepsia 55:1292-1300. Pubmed ID: 24836831

Publication ID: DB12-015

Comments:

Entry last updated on: 2015-12-02 01:19:28

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