FOXG1 Proband Entry
Entry ID: fp84
Systematic name: c.505_506delGGinsT
Protein name: p.Gly169Serfs*23
Alternate name(s):
Mutation type: frameshift insertion and/or deletion
Domain: Inter domain region
Pathogenicity class: pathogenic variant
Gender: Male
Phenotype: Not known
Other mutation: N
Chromosomal abnormality: Not known
Method of testing: direct
Source of DNA: Blood
Familial testing: No
Control screening: No
dbSNP ID:
Source: Directly submitted
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.505_506delGGinsT | p.Gly169Serfs*23 | Rett syndrome - sporadic | Male | 21441262 Kortum, F. et al (2011) | fp22 |
Displaying a total number of 1 proband entries.