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: 2018-06-26 10:41:54
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.