rs374203579

This variant is located in the PEX10 gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

Peroxisome biogenesis disorder, complementation group 7

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About PEX10

This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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