FOXG1 Proband Entry



   CSV explantation textc


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: 2015-12-02 01:18:46

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.