rs1204130200

This variant is located in the AK9 gene.

ClinVar annotation

Pathogenic
1 submitter1 publication

Spermatogenic failure 89

View on ClinVar →

About AK9

The protein encoded by this gene catalyzes the interconversion of nucleosides, possessing both nucleoside monophosphate and diphosphate kinase activities. The encoded protein uses these interconversions to maintain nucleoside homeostasis. [provided by RefSeq, Jul 2016]

View all AK9 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…