FOXG1 Variant
Variant ID: fm63
Systematic name: c.757A>G
Protein name: p.Asn253Asp
Alternate name(s):
Mutation type: missense
Domain: Forkhead binding domain
Pathogenicity class: pathogenic variant
dbSNP ID:
First reference: Directly submitted
Comments: in the forkhead binding domain
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.757A>G | p.Asn253Asp | Rett syndrome - sporadic | Female | 21441262, Kortum, F. et al (2011) | fp17 |
c.757A>G | p.Asn253Asp | Not known | Female | Directly submitted | fp86 |
Displaying a total number of 2 proband entries matching this variant.