rs754130052

This is a variant in the SUN5 gene that changes a arginine to an cysteine.

ClinVar annotation

Pathogenic☆☆☆
3 submitters2 publications

Spermatogenic failure 16 (SPGF16)

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About SUN5

The protein encoded by this gene appears to play a role in the meiotic stage of spermatogenesis. The encoded protein localizes to the junction between the sperm head and body and may be involved in nuclear envelope reconstitution and nuclear migration. Mutations in this gene have been implicated in acephalic spermatozoa syndrome. [provided by RefSeq, May 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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