rs147032077

This variant is located in the ALDH16A1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About ALDH16A1

This gene encodes a member of the aldehyde dehydrogenase superfamily. The family members act on aldehyde substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene is conserved in chimpanzee, dog, cow, mouse, rat, and zebrafish. The protein encoded by this gene interacts with maspardin, a protein that when truncated is responsible for Mast syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]

View all ALDH16A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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