rs2541135

This variant is located in the ETV6 gene.

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ClinVar annotation

Benign★☆☆☆

1 submitter

About ETV6

This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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