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BTK C481S
GeneBTK
Variantmissense
Amino Acid ChangeC481S
Transcript ID (GRCh37/hg19)ENST00000308731
Codon481
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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BTK
Variants
BTK C481S
Primary Sites
Lymph Node
Blood
Bone Marrow
Tumor Types
Chronic Lymphocytic Leukemia
Mantle Cell Lymphoma
Interpretation

The BTK p.C481S variant has been previously reported to be associated with Ibrutinib resistance in patients with chronic lymphocytic leukemia.

Last updated: 2017-01-20 03:34:31 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.

When using PMKB, please cite: Huang et al., JAMIA 2017

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