FOXG1 Proband Entry

   CSV explantation textc

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


Source: Directly submitted


Entry last updated on: 2018-06-26 10:38:56

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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.