Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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(SOX30 Gln429Lys)
Short summary
Impact
Insufficiently evaluated not reviewed
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Inheritance pattern
unknown
Summary of published research, and additional commentary
huC30901 - CGI sample GS00253-DNA_B01_200_37 het T @ chr5:157073747
GS07357 - var-GS07357-1100-36-ASM het T @ chr5:157006325
GS19834 - var-GS19834-1100-36-ASM het T @ chr5:157006325