rs6458913

This variant is located in the ELOVL5 gene.

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ClinVar annotation

Benign★☆☆☆

1 submitter

About ELOVL5

This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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