Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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(RRP15 Lys149Asn)
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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
huAE6220 - CGI sample GS00253-DNA_H01_200_37 het C @ chr1:218478411
GS18526 - var-GS18526-1100-36-ASM het C @ chr1:216545034
GS18558 - var-GS18558-1100-36-ASM het C @ chr1:216545034
Added in this revision:
GS19700 - var-GS19700-1100-36-ASM het C @ chr1:216545034