rs942904688

This variant is located in the KASH5 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About KASH5

Predicted to enable dynein complex binding activity. Predicted to be involved in several processes, including cytoskeleton organization; homologous chromosome segregation; and spindle localization. Predicted to act upstream of or within several processes, including double-strand break repair via homologous recombination; meiotic telomere clustering; and spermatogenesis. Predicted to be located in chromosome; membrane; and nuclear envelope. Predicted to be part of meiotic nuclear membrane microtubule tethering complex. Predicted to be active in chromosome; meiotic spindle pole; and nuclear outer membrane. Implicated in primary ovarian insufficiency and spermatogenic failure 88. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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