FOXG1 Variant



   CSV explantation text


Variant ID: fm62

Systematic name: c.755G>T

Protein name: p.Gly252Val

Alternate name(s):

Mutation type: missense

Domain: Forkhead binding domain

Pathogenicity class: pathogenic variant

dbSNP ID:

First reference: Directly submitted

Comments: in the forkhead binding domain

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.755G>T p.Gly252Val Not Rett syndrome - sporadic Female 24836831, Seltzer, L.E. et al (2014) fp49
c.755G>T p.Gly252Val Not known Female Directly submitted fp85

Displaying a total number of 2 proband entries matching this variant.