FOXG1 Proband Entry
Entry ID: fp82
Systematic name: c.[563C>G(;)644_645delTCinsCT]
Protein name: p.[Ala188Gly(;)Phe215Ser]
Alternate name(s):
Mutation type: missense
Domain: Forkhead binding domain
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not known
Other mutation: Y
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
There are no other entries in the database with a similar genotype.
The construction, maintenance and upgrade of RettBASE have been made possible by the very generous financial support of the RettSyndrome.org, formerly International Rett Syndrome Foundation.
To cite RettBASE, please use :
Krishnaraj R, Ho G, Christodoulou J. 2017. RettBASE: Rett syndrome database update. Hum Mutat 2017;00:1-10. Pubmed: 28544139
orChristodoulou J, Grimm A, Maher T, Bennetts B. 2003. RettBASE: The IRSA MECP2 Variation Database - A New Mutation Database in Evolution. Hum Mutat 21:466-472. Pubmed: 12673788
orRettBASE: RettSyndrome.org Variation Database mecp2.chw.edu.au
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