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

dbSNP ID:

First reference: Directly submitted

Comments:

Variant last updated on: 2016-01-07 21:55:04

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.