FOXG1 Proband Entry



Entry ID: fp13

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: Male

Phenotype: Rett syndrome - sporadic

Other mutation: N

Chromosomal abnormality: No

Method of testing: direct, MECP2, CDKL5, FOXG1

Source of DNA: blood

Familial testing: absent in both parents

Control screening:

dbSNP ID:

Source: Le Guen, T., Bahi-Buisson, N., Nectoux, J., Boddaert, N., Fichou, Y., Diebold, B., Desguerre, I., Raqbi, F., Daire, V.C., Chelly, J., Bienvenu, T. (2011) A FOXG1 mutation in a boy with congenital variant of Rett syndrome. Neurogenetics 12:42217. Pubmed ID: 20734096

Publication ID:

Comments:

Entry last updated on: 2015-12-02 01:17:53

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.256dupC p.Gln86Profs*35 Rett syndrome - sporadic Female 22129046 Takahashi, S. et al (2012) fp28
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.