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: 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 | 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.