rs1254264958

This variant is located in the GREB1L gene.

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ClinVar annotation

Likely Pathogenic★☆☆☆
1 submitter1 publication

Male infertility with azoospermia or oligozoospermia due to single gene mutation

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About GREB1L

Acts upstream of or within kidney development. Predicted to be located in membrane. Implicated in autosomal dominant nonsyndromic deafness 80 and renal agenesis. [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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