FOXG1 Proband Entry



Entry ID: fp15

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: Male

Phenotype: Not Rett syndrome - sporadic

Other mutation:

Chromosomal abnormality: Not known

Method of testing: direct, MECP2, CDKL5, FOXG1

Source of DNA: blood

Familial testing: No

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: 2016-09-30 11:26:50

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.326C>T p.Pro109Leu Not Rett syndrome - sporadic Female 21280142 Le Guen, T. et al (2010) fp14

Displaying a total number of 1 proband entries.