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!
(PRKCSH Ala291Thr)
You are viewing an old version of this page that was saved on November 29, 2012 at 3:55am 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
hu232307 - PGP14 (hu232307) build 36, substitution variants, hu232307 build 36 substitution variants het A @ chr19:11419275
hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598 hom A @ chr19:11558275
hu604D39 - CGI sample GS00253-DNA_B02_200_37 het A @ chr19:11558275
hu728FFF - PGP11 (hu728FFF) build 36, substitution variants, hu728FFF build 36 substitution variants het A @ chr19:11419275
huA90CE6 - PGP16 (huA90CE6) build 37, from CGI var (software ver 2.0.2.11), CGI sample GS000006909 het A @ chr19:11558275
huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538 hom A @ chr19:11558275
huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981 het A @ chr19:11558275
Added in this revision:
huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228 het A @ chr19:11558275
huE80E3D - CGI sample GS00253-DNA_D01_200_37 het A @ chr19:11558275
GS07357 - var-GS07357-1100-36-ASM hom A @ chr19:11419275
GS10851 - var-GS10851-1100-36-ASM het A @ chr19:11419275
GS19735 - var-GS19735-1100-36-ASM het A @ chr19:11419275
GS20509 - var-GS20509-1100-36-ASM het A @ chr19:11419275