FOXG1 Proband Entry



   CSV explantation textc


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: 2016-01-07 23:54:25

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.