rs137853065

This is a variant in the ACAA1 gene that changes a leucine to an proline.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Pyogenic bacterial infections due to MyD88 deficiency (IMD68)

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About ACAA1

This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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