FOXG1 Variant
Variant ID: fm1
Systematic name: c.974_975insA
Protein name: p.Ser326Glufs*129
Alternate name(s):
Mutation type: frameshift insertion and/or deletion
Domain: Inter domain region
Pathogenicity class: likely pathogenic variant
dbSNP ID:
First reference: Diebold, B., Delepine, C., Nectoux, J., Bahi-Buisson, N., Parent, P., Bienvenu, T. (2014) Somatic mosaicism for a FOXG1 mutation: diagnostic implication.. Clinical Genetics 85:589-591. Pubmed ID: 24766421
Comments: change of 60 aa donwstream
Variant last updated on: 2018-06-26 10:34:32
Matching entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.974_975insA | p.Ser326Glufs*129 | Not Rett syndrome - sporadic | Male | 24766421, Diebold, B. et al (2014) | fp1 |
Displaying a total number of 1 proband entries matching this variant.