Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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You are viewing the latest version of this page, saved on May 22, 2013 at 10:43am by Paul Szauter.
Edited in this revision:
PolyPhen-2 predicts BCKDHA-Q42R to be BENIGN with a score of 0.059 (sensitivity: 0.94; specificity: 0.84).
Insufficiently evaluated not reviewed
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr19:41916558
GS19017 - var-GS19017-1100-36-ASM
het G @ chr19:46608398