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SERAC1

serine active site containing 1

HCNC Approved Symbol
SERAC1 (HGNC:21061)
Genomic Coordinates
6:158,109,519 - 158,168,262 (6q25.3)
Synonyms
FLJ14917
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the SERAC1 gene.

Frequently observed phenotypes

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

Hepatomegaly
 2 (50.0%)
Decreased serum ceruloplasmin
 1 (25.0%)
Global developmental delay
 1 (25.0%)
Hyperintensity of cerebral white matter on mri
 1 (25.0%)
Progressive psychomotor deterioration
 1 (25.0%)
SERAC1 - Gene browser | 3billion