FOXG1 Variant

   CSV explantation text

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


First reference: Directly submitted


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.