Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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(COL5A1 Gly530Ser)
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
hu04FD18 - CGI sample GS00253-DNA_F01_200_37 het A @ chr9:137642654
hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009 het A @ chr9:137642654