FOXG1 Variant



   CSV explantation text


Variant ID: fm24

Systematic name: c.256delC

Protein name: p.Gln86Argfs*106

Alternate name(s):

Mutation type: frameshift insertion and/or deletion

Domain: Inter domain region

Pathogenicity class: pathogenic variant

dbSNP ID:

First reference: Allou, L., Lambert, L., Amsallem, D., Bieth, E., Edery, P., Destree, A., Rivier, F., Amor, D., Thompson, E., Nicholl, J., Harbord, M., Nemos, C., Saunier, A., Moustaine, A., Vigouroux, A., Jonveaux, P., Philippe, C. (2012) 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements. Eur J Hum Genet 20:1216-1223. Pubmed ID: 22739344

Comments:

Variant last updated on: 2015-12-02 00:19:10

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.256delC p.Gln86Argfs*106 Rett syndrome - sporadic Male 22739344, Allou, L. et al (2012) fp31

Displaying a total number of 1 proband entries matching this variant.