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!
(SPTBN5 Gln2816Glu)
You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm 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 C @ chr15:39936798
hu728FFF - PGP11 (hu728FFF) build 36, substitution variants, hu728FFF build 36 substitution variants het C @ chr15:39936798
huAE6220 - CGI sample GS00253-DNA_H01_200_37 het C @ chr15:42149506
huC30901 - CGI sample GS00253-DNA_B01_200_37 hom C @ chr15:42149506
GS06994 - var-GS06994-1100-36-ASM het C @ chr15:39936798
GS07357 - var-GS07357-1100-36-ASM hom C @ chr15:39936798
GS12004 - var-GS12004-1100-36-ASM het C @ chr15:39936798
Added in this revision:
GS18526 - var-GS18526-1100-36-ASM hom C @ chr15:39936798
NA07022
snp-1
snp-2
snp-3
snp-6