FOXG1 Proband Entry
Entry ID: fp28
Systematic name: c.256dupC
Protein name: p.Gln86Profs*35
Alternate name(s):
Mutation type: frameshift insertion and/or deletion
Domain: Inter domain region
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Rett syndrome - sporadic
Other mutation: N
Chromosomal abnormality: Not known
Method of testing: direct, MECP2, CDKL5, FOXG1
Source of DNA: blood
Familial testing: de novo
Control screening: No
dbSNP ID:
Source: Takahashi, S., Matsumoto, N., Okayama, A., Suzuki, N, Araki, A., Okajima, K., Tanaka, H., Miyamoto, A. (2012) FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome. Clinical Genetics 82:569-573. Pubmed ID: 22129046
Publication ID: Patient 1
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.256dupC | p.Gln86Profs*35 | Rett syndrome - sporadic | Male | 20734096 Le Guen, T. et al (2011) | fp13 |
c.256dupC | p.Gln86Profs*35 | Rett syndrome - sporadic | Female | 22739344 Allou, L. et al (2012) | fp30 |
c.256dupC | p.Gln86Profs*35 | Rett syndrome - sporadic | Female | 22968132 Ellaway, C.J. et al (2012) | fp33 |
Displaying a total number of 3 proband entries.