rs201956265

This variant is located in the RBM5 gene.

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ClinVar annotation

Likely Pathogenic★☆☆☆

1 submitter1 publication

Male infertility with azoospermia or oligozoospermia due to single gene mutation

About RBM5

This gene is a candidate tumor suppressor gene which encodes a nuclear RNA binding protein that is a component of the spliceosome A complex. The encoded protein plays a role in the induction of cell cycle arrest and apoptosis through pre-mRNA splicing of multiple target genes including the tumor suppressor protein p53. This gene is located within the tumor suppressor region 3p21.3, and may play a role in the inhibition of tumor transformation and progression of several malignancies including lung cancer. [provided by RefSeq, Oct 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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