FOXG1 Proband Entry
Entry ID: fp14
Systematic name: c.326C>T
Protein name: p.Pro109Leu
Alternate name(s):
Mutation type: missense
Domain: Inter domain region
Pathogenicity class: likely benign variant
Gender: Female
Phenotype: Not Rett syndrome - sporadic
Other mutation: N
Chromosomal abnormality: No - normal
Method of testing: direct, MECP2, CDKL5, FOXG1
Source of DNA: blood
Familial testing: heterozygous in healthy father
Control screening: No
dbSNP ID:
Source: Le Guen, T., Fichou, Y., Nectoux, J., Bahi-Buisson, N., Rivier, F., Boddaert, N., Diebold, B., Heron, D., Chelly, J., Bienvenu, T. (2010) A missense mutation within the fork-head doamin of the forkhead box G1 gene (FOXG1) affects its nuclear localization. Human Mutation 32:E2026-E2035. Pubmed ID: 21280142
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.326C>T | p.Pro109Leu | Not Rett syndrome - sporadic | Male | 21280142 Le Guen, T. et al (2010) | fp15 |
Displaying a total number of 1 proband entries.