FOXG1 Variant
Variant ID: fm60
Systematic name: c.263_278del16
Protein name: p.Arg88Profs*99
Alternate name(s):
Mutation type: frameshift insertion and/or deletion
Domain: Inter domain region
Pathogenicity class: pathogenic variant
dbSNP ID:
First reference: Directly submitted
Comments:
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.263_278del16 | p.Arg88Profs*99 | Rett syndrome - sporadic | Male | 21441262, Kortum, F. et al (2011) | fp23 |
c.263_278del16 | p.Arg88Profs*99 | Not known | Male | Directly submitted | fp83 |
Displaying a total number of 2 proband entries matching this variant.