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!
(LAMA1 Lys2002Glu)
You are viewing an old version of this page that was saved on May 19, 2010 at 6:28pm 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
hu034DB1 - CGI sample GS00253-DNA_A02_200_37 het C @ chr18:6980523
hu0D879F - CGI sample GS00253-DNA_G01_200_37 hom C @ chr18:6980523
hu43860C - CGI sample GS00253-DNA_A01_200_37 hom C @ chr18:6980523
hu604D39 - CGI sample GS00253-DNA_B02_200_37 hom C @ chr18:6980523
Added in this revision:
huAE6220 - CGI sample GS00253-DNA_H01_200_37 hom C @ chr18:6980523
huC30901 - CGI sample GS00253-DNA_B01_200_37 hom C @ chr18:6980523
huE80E3D - CGI sample GS00253-DNA_D01_200_37 hom C @ chr18:6980523
NA07022
NA12156
NA12878
NA18507
NA18517
NA18555
NA18956
NA19129
NA19240
snp-1
snp-18
snp-26
snp-29
snp-3
snp-30
snp-31
snp-32
snp-5
snp-6