FOXG1 Variant
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
dbSNP ID:
First reference: Directly submitted
Comments:
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.