Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.
Please help improve GET-Evidence by evaluating evidence for this variant!
(SSFA2 Gly647Asp)
You are viewing an old version of this page that was saved on June 23, 2011 at 12:11am 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
hu3A8D13 - PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16), CGI sample GS000003289 het A @ chr2:182780307
GS18517 - var-GS18517-1100-36-ASM het A @ chr2:182488552
GS18558 - var-GS18558-1100-36-ASM het A @ chr2:182488552
GS18940 - var-GS18940-1100-36-ASM het A @ chr2:182488552
GS19025 - var-GS19025-1100-36-ASM het A @ chr2:182488552
GS19701 - var-GS19701-1100-36-ASM het A @ chr2:182488552
NA12878
NA18517
Deleted in this revision: