Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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(PCNT Arg1953His)
You are viewing an old version of this page that was saved on November 29, 2012 at 2:44am by Genome Importing Robot.
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
Added in this revision:
hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372 het A @ chr21:47831845
hu9385BA - CGI sample GS00253-DNA_E01_200_37 het A @ chr21:47831845
GS06985 - var-GS06985-1100-36-ASM het A @ chr21:46656273
GS19703 - var-GS19703-1100-36-ASM het A @ chr21:46656273