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CTCF

CCCTC-binding factor

HCNC Approved Symbol
CTCF (HGNC:13723)
Genomic Coordinates
16:67,562,526 - 67,639,185 (16q22.1)
Synonyms
FAP108, CFAP108
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the CTCF gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Global developmental delay
 3 (42.9%)
Short stature
 2 (28.6%)
Cleft palate
 2 (28.6%)
Autism
 2 (28.6%)
Developmental delay
 
1 (14.3%)
CTCF - Gene browser | 3billion