FOXG1 Proband Entry
Entry ID: fp94
Systematic name: c.572T>G
Protein name: p.Met191Arg
Alternate name(s):
Mutation type: missense
Domain: Forkhead binding domain
Pathogenicity class: likely pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - familial
Other mutation: N
Chromosomal abnormality: Not known
Method of testing: direct
Source of DNA: Blood
Familial testing: present in mother
Control screening: No
dbSNP ID:
Source: McMahon KQ, Papandreou A, Ma M, Barry BJ, Mirzaa GM, Dobyns WB, Scott RH, Trump N, Kurian MA, Paciorkowski AR (2015) Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.. American Journal of Medical Genetics 167:3096-3102. Pubmed ID: 26364767
Publication ID: DBL01-010a2
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.572T>G | p.Met191Arg | Not Rett syndrome - familial | Female | 26364767 McMahon KQ et al (2015) | fp93 |
c.572T>G | p.Met191Arg | Not Rett syndrome - familial | Male | 26364767 McMahon KQ et al (2015) | fp95 |
Displaying a total number of 2 proband entries.