FOXG1 Proband Entry
Entry ID: fp1
Systematic name: c.974_975insA
Protein name: p.Ser326Glufs*129
Alternate name(s):
Mutation type: frameshift insertion and/or deletion
Domain: Inter domain region
Pathogenicity class: likely pathogenic variant
Gender: Male
Phenotype: Not Rett syndrome - sporadic
Other mutation: N
Chromosomal abnormality: Not known
Method of testing: direct
Source of DNA: not stated
Familial testing: absent in father, mosaic in mother (35.6% leukocytes, 9.7% in fibroblasts)
Control screening:
dbSNP ID:
Source: Diebold, B., Delepine, C., Nectoux, J., Bahi-Buisson, N., Parent, P., Bienvenu, T. (2014) Somatic mosaicism for a FOXG1 mutation: diagnostic implication.. Clinical Genetics 85:589-591. Pubmed ID: 24766421
Publication ID:
Comments:
Entry last updated on: 2018-06-26 10:34:24
Similar entries in the proband database
There are no other entries in the database with a similar genotype.