FOXG1 Proband Entry



Entry ID: fp82

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

Gender: Female

Phenotype: Not known

Other mutation: Y

Chromosomal abnormality: Not known

Method of testing: direct

Source of DNA: Blood

Familial testing: mother and father tested normal

Control screening: No

dbSNP ID:

Source: Directly submitted

Comments:

Entry last updated on: 2016-01-07 21:55:25

Similar entries in the proband database

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