FOXG1 Variant

   CSV explantation text

Variant ID: fm59

Systematic name: c.[563C>G(;)644_645delTCinsCT]

Protein name: p.[Ala188Gly(;)Phe215Ser]

Alternate name(s):

Mutation type: missense

Domain: Forkhead binding domain

Pathogenicity class: pathogenic variant


First reference: Directly submitted


Variant last updated on: 2018-06-26 10:41:54

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.[563C>G(;)644_645delTCinsCT] p.[Ala188Gly(;)Phe215Ser] Not known Female Directly submitted fp82

Displaying a total number of 1 proband entries matching this variant.