FOXG1 Variant



Variant ID: fm63

Systematic name: c.757A>G

Protein name: p.Asn253Asp

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.757A>G p.Asn253Asp Rett syndrome - sporadic Female 21441262, Kortum, F. et al (2011) fp17
c.757A>G p.Asn253Asp Not known Female Directly submitted fp86

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