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

dbSNP ID:

Source: Directly submitted

Comments:

Entry last updated on: 2016-01-07 21:55:25

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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.