rs1196978991

This variant is located in the CCDC62 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About CCDC62

Enables nuclear estrogen receptor binding activity and transcription coactivator activity. Involved in several processes, including cellular response to estradiol stimulus; estrogen receptor signaling pathway; and positive regulation of transcription by RNA polymerase II. Located in acrosomal vesicle and nucleus. Implicated in spermatogenic failure 67. [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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