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AMACR

alpha-methylacyl-CoA racemase

HCNC Approved Symbol
AMACR (HGNC:451)
Genomic Coordinates
5:33,986,165 - 34,008,050 (5p13.2)
Synonyms
RACE, P504S
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Alpha-methylacyl-CoA racemase deficiency
614307AR
Bile acid synthesis defect, congenital, 4
214950AR

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the AMACR gene.

Frequently observed phenotypes

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

No Results