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!
(SRMS Val457Leu)
You are viewing an old version of this page that was saved on June 23, 2011 at 12:16am 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
hu3215A7 - PGP12 (hu3215A7) build 36, substitution variants, hu3215A7 build 36 substitution variants het A @ chr20:61642713
hu604D39 - CGI sample GS00253-DNA_B02_200_37 hom A @ chr20:62172269
huC30901 - CGI sample GS00253-DNA_B01_200_37 het A @ chr20:62172269
GS06985 - var-GS06985-1100-36-ASM het A @ chr20:61642713
GS18501 - var-GS18501-1100-36-ASM het A @ chr20:61642713
GS18502 - var-GS18502-1100-36-ASM hom A @ chr20:61642713
GS18505 - var-GS18505-1100-36-ASM hom A @ chr20:61642713
GS18517 - var-GS18517-1100-36-ASM het A @ chr20:61642713
GS19020 - var-GS19020-1100-36-ASM hom A @ chr20:61642713
GS19026 - var-GS19026-1100-36-ASM het A @ chr20:61642713
GS19129 - var-GS19129-1100-36-ASM hom A @ chr20:61642713
GS19238 - var-GS19238-1100-36-ASM het A @ chr20:61642713
GS19239 - var-GS19239-1100-36-ASM het A @ chr20:61642713
GS19240 - var-GS19240-1100-36-ASM het A @ chr20:61642713
GS19700 - var-GS19700-1100-36-ASM het A @ chr20:61642713
GS19703 - var-GS19703-1100-36-ASM het A @ chr20:61642713
GS19834 - var-GS19834-1100-36-ASM het A @ chr20:61642713
NA12878
NA19129
Deleted in this revision: