rs869320716

This is a variant in the SLFN14 gene that changes a lysine to an glutamate.

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ClinVar annotation

Pathogenic★☆☆☆
4 submitters3 publications

Inborn genetic diseases; Platelet-type bleeding disorder 20 (BDPLT20)

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About SLFN14

The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016]

View all SLFN14 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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