FOXG1 Proband Entry
Entry ID: fp86
Systematic name: c.757A>G
Protein name: p.Asn253Asp
Alternate name(s):
Mutation type: missense
Domain: Forkhead binding domain
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not known
Other mutation: N
Chromosomal abnormality: Not known
Method of testing: direct
Source of DNA: Blood
Familial testing: mother and father tested normal
Control screening: No
dbSNP ID:
Source: Directly submitted
Comments:
Entry last updated on: 2018-06-26 10:38:56
Similar 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 |
Displaying a total number of 1 proband entries.