rs138461673

This variant is located in the ADHFE1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
2 submitters

not specified; Clear cell carcinoma of kidney; Sarcoma

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About ADHFE1

The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008]

View all ADHFE1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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