rs2470122

This variant is located in the CATSPER2 gene.

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

About CATSPER2

This gene encodes a member of a family of cation channel proteins that localize to the flagellum of spermatozoa. Defects at this locus causes male infertility. Alternatively spliced transcript variants have been observed at this locus. Readthrough transcription originates upstream of this locus in diphosphoinositol pentakisphosphate kinase 1 pseudogene 1 and is represented by GeneID:110006325. Related pseudogenes are found next to this locus on chromosome 15 and on chromosome 5. [provided by RefSeq, Mar 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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