rs942499417

This variant is located in the ADI1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About ADI1

This gene encodes an enzyme that belongs to the aci-reductone dioxygenase family of metal-binding enzymes, which are involved in methionine salvage. This enzyme may regulate mRNA processing in the nucleus, and may carry out different functions depending on its localization. Related pseudogenes have been defined on chromosomes 8 and 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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