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!
(D2HGDH Ala361Val)
You are viewing an old version of this page that was saved on November 29, 2012 at 4:52am 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
hu0D879F - CGI sample GS00253-DNA_G01_200_37 het T @ chr2:242690745
hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424 het T @ chr2:242690745
huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671 het T @ chr2:242690745
huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981 het T @ chr2:242690745
huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228 het T @ chr2:242690745
huE80E3D - CGI sample GS00253-DNA_D01_200_37 het T @ chr2:242690745
Added in this revision:
huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191 het T @ chr2:242690745
GS06985 - var-GS06985-1100-36-ASM het T @ chr2:242339418
GS18501 - var-GS18501-1100-36-ASM het T @ chr2:242339418
GS18502 - var-GS18502-1100-36-ASM het T @ chr2:242339418
GS18504 - var-GS18504-1100-36-ASM hom T @ chr2:242339418
GS18505 - var-GS18505-1100-36-ASM het T @ chr2:242339418
GS18526 - var-GS18526-1100-36-ASM hom T @ chr2:242339418
GS18555 - var-GS18555-1100-36-ASM het T @ chr2:242339418
GS18940 - var-GS18940-1100-36-ASM hom T @ chr2:242339418
GS18947 - var-GS18947-1100-36-ASM het T @ chr2:242339418
GS19017 - var-GS19017-1100-36-ASM hom T @ chr2:242339418
GS19025 - var-GS19025-1100-36-ASM het T @ chr2:242339418
GS19129 - var-GS19129-1100-36-ASM het T @ chr2:242339418
GS19669 - var-GS19669-1100-36-ASM het T @ chr2:242339418
GS19700 - var-GS19700-1100-36-ASM het T @ chr2:242339418
GS19703 - var-GS19703-1100-36-ASM het T @ chr2:242339418
GS19735 - var-GS19735-1100-36-ASM het T @ chr2:242339418
GS19834 - var-GS19834-1100-36-ASM het T @ chr2:242339418
GS20509 - var-GS20509-1100-36-ASM het T @ chr2:242339418
GS21767 - var-GS21767-1100-36-ASM het T @ chr2:242339418