FOXG1 Proband Entry
Systematic name: c.159_161dupCCA
Protein name: p.His57dup
Alternate name(s):
Mutation type: in-frame insertion and/or deletion
Domain: Inter domain region
Pathogenicity class: benign variant
Gender: Male
Phenotype: Not Rett syndrome - sporadic
Other mutation: N
Chromosomal abnormality: No
Method of testing: direct, MECP2, CDKL5, FOXG1
Source of DNA: not certain
Familial testing: in daughter with encephalopathy
Control screening: No
dbSNP ID:
Source: Van der Aa, N., Van den Bergh, M., Ponomarenko, N., Verstraete, L., Ceulemans, B., Storm, K. (2011) Analysis of FOXG1 is highly recommended in male and female patients with Rett syndrome. Molecular Syndromology 1:290-293. Pubmed ID: 22190898
Publication ID:
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.159_161dupCCA | p.His57dup | Not Rett syndrome - sporadic | Female | 22190898 Van der Aa, N. et al (2011) | fp26 |
Displaying a total number of 1 proband entries.