FOXG1 Proband Entry
Entry ID: fp83
Systematic name: c.263_278del16
Protein name: p.Arg88Profs*99
Alternate name(s):
Mutation type: frameshift insertion and/or deletion
Domain: Inter domain region
Pathogenicity class: pathogenic variant
Gender: Male
Phenotype: Not known
Other mutation: N
Chromosomal abnormality: Not known
Method of testing: direct
Source of DNA: Blood
Familial testing: No
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.263_278del16 | p.Arg88Profs*99 | Rett syndrome - sporadic | Male | 21441262 Kortum, F. et al (2011) | fp23 |
Displaying a total number of 1 proband entries.
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
The RettBASE databases and website are curated and maintained by Prof. John Christodoulou and Rahul Krishnaraj, Western Sydney Genetics Program, Children's Hospital Westmead, formerly with Andrew Grimm. We thank our collaborators for their input and support for this project.
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