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!
(MAST2 Lys1197Arg)
You are viewing the latest version of this page, saved on November 29, 2012 at 7:28am 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:
hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372 het G @ chr1:46499526
huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671 het G @ chr1:46499526
huA90CE6 - PGP16 (huA90CE6) build 37, from CGI var (software ver 2.0.2.11), CGI sample GS000006909 het G @ chr1:46499526
huBEDA0B - CGI sample GS00253-DNA_C01_200_37 het G @ chr1:46499526
huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228 hom G @ chr1:46499526
GS06985 - var-GS06985-1100-36-ASM het G @ chr1:46272113
GS19670 - var-GS19670-1100-36-ASM het G @ chr1:46272113
GS20509 - var-GS20509-1100-36-ASM het G @ chr1:46272113