rs757911000

This variant is located in the EPS15 gene.

ClinVar annotation

Likely Benign☆☆☆
1 submitter

not specified

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About EPS15

This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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