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PHACTR1

phosphatase and actin regulator 1

HCNC Approved Symbol
PHACTR1 (HGNC:20990)
Genomic Coordinates
6:12,716,767 - 13,287,837 (6p24.1)
Synonyms
KIAA1733, dJ257A7.2, RPEL1
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the PHACTR1 gene.

Frequently observed phenotypes

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

Epileptic encephalopathy
 1 (100.0%)
PHACTR1 - Gene browser | 3billion