FOXG1 Proband Entry
Entry ID: fp46
Systematic name: c.515_577del63
Protein name: p.Gly172_Met192del
Alternate name(s):
Mutation type: in-frame insertion and/or deletion
Domain: Inter domain region
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - familial
Other mutation: NK
Chromosomal abnormality: Not known
Method of testing: direct
Source of DNA:
Familial testing: also present in affected sister
Control screening: No
dbSNP ID:
Source: Seltzer, L.E., Ma, M., Ahmed, S., Bertrand, M., Dobyns, W.B., Wheless, J., Paciorkowski, A.R. (2014) Epilepsy and outcome in FOXG1-related disorders. Epilepsia 55:1292-1300. Pubmed ID: 24836831
Publication ID: DB12-017a2
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.515_577del63 | p.Gly172_Met192del | Not Rett syndrome - familial | Female | 24836831 Seltzer, L.E. et al (2014) | fp45 |
Displaying a total number of 1 proband entries.