rs12032814

This is a intron variant variant in the H6PD gene.

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ClinVar annotation

Likely Benign★☆☆☆

3 submitters1 publication

Cortisone reductase deficiency 1 (CORTRD1); not specified

About H6PD

There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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