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RDH13

Synonyms
SDR7C3
External resources
Summary
This gene encodes a mitochondrial short-chain dehydrogenase/reductase, which catalyzes the reduction and oxidation of retinoids. The encoded enzyme may function in retinoic acid production and may also protect the mitochondria against oxidative stress. Alternatively spliced transcript variants have been described.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
4,075
Likely benign
462
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on RDH13 gene.

Phenotype class
Patients in 3billion (%)

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