FOXG1 Proband Entry



   CSV explantation textc


Entry ID: fp85

Systematic name: c.755G>T

Protein name: p.Gly252Val

Alternate name(s):

Mutation type: missense

Domain: Forkhead binding domain

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not known

Other mutation: N

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

cDNA name Protein name Phenotype Gender Reference Proband ID
c.755G>T p.Gly252Val Not Rett syndrome - sporadic Female 24836831 Seltzer, L.E. et al (2014) fp49

Displaying a total number of 1 proband entries.