FOXG1 Proband Entry



   CSV explantation textc


Entry ID: fp27

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: 2015-12-02 01:18:46

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.