FOXG1 Proband Entry



Entry ID: fp83

Systematic name: c.263_278del16

Protein name: p.Arg88Profs*99

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: 2016-01-07 21:55:25

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.263_278del16 p.Arg88Profs*99 Rett syndrome - sporadic Male 21441262 Kortum, F. et al (2011) fp23

Displaying a total number of 1 proband entries.