FOXG1 Variant



Variant ID: fm2

Systematic name: c.788_792delACGTG

Protein name: p.Asp263Valfs*190

Alternate name(s):

Mutation type: frameshift insertion and/or deletion

Domain: Forkhead binding domain

Pathogenicity class: pathogenic variant

dbSNP ID:

First reference: Das, D.K., Jadhav, V., Ghattargi, V., Udani, V. (2014) Novel mutation in forkhead box G1 (FOXG1) gene in an Indian patient with Rett syndrome. Gene 538:109-112. Pubmed ID: 24412290

Comments: change of 200 aa downstream

Variant last updated on: 2015-12-02 00:18:24

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.788_792delACGTG p.Asp263Valfs*190 Rett syndrome - sporadic Female 24412290, Das, D.K. et al (2014) fp2

Displaying a total number of 1 proband entries matching this variant.