XYLT2 T801R - GET-Evidence

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!


(See the latest version)


(XYLT2 Thr801Arg)

You are viewing an old version of this page that was saved on November 29, 2012 at 3:04am by Genome Importing Robot.

Short summary


Variant evidence
Computational -

Variant Effect Predictor (Ensembl ):
Mutation Tasting Prediction: Polymorphism p value: 0.603249; protein features (might be) affected (Detail: aa 37-865 TOPO_DOMAIN Lumenal (Potential) gets lost)
SIFT: Affect protein function 0.01
GVGD: GV 58.02; GD 70.85; Class C15
Multi-alignment of Q9H1B5.2 xylosyltransferase 2 [Homo sapiens] with: NP_001009086.1 [Pan troglodytes] XP_003281297.1 [Nomascus leucogenys] XP_001093519.1 [Macaca mulatta] XP_002827433.1 [Pongo abelii] NP_001008714.1 [Canis lupus familiaris] NP_071632.2 [Rattus norvegicus] NP_665827.2 [Mus musculus] BAE29633.1 [Mus musculus] BAE31911.1 [Mus musculus] Q9EPI0.1 [Rattus norvegicus]

Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • G @ chr17:48437456: 34.4% (3705/10756) in EVS
  • G @ chr17:45792454: 21.9% (28/128) in GET-Evidence
  • Frequency shown in summary reports: 34.4% (3705/10756)



hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr17:48437456


hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr17:48437456








huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr17:48437456


huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr17:48437456


Added in this revision:

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het G @ chr17:48437456


GS06994 - var-GS06994-1100-36-ASM
hom G @ chr17:45792455


GS12004 - var-GS12004-1100-36-ASM
het G @ chr17:45792455


GS18501 - var-GS18501-1100-36-ASM
hom G @ chr17:45792455


GS18502 - var-GS18502-1100-36-ASM
het G @ chr17:45792455


GS18508 - var-GS18508-1100-36-ASM
het G @ chr17:45792455


GS18517 - var-GS18517-1100-36-ASM
het G @ chr17:45792455


GS18956 - var-GS18956-1100-36-ASM
het G @ chr17:45792455


GS19017 - var-GS19017-1100-36-ASM
het G @ chr17:45792455


GS19025 - var-GS19025-1100-36-ASM
het G @ chr17:45792455


GS19026 - var-GS19026-1100-36-ASM
hom G @ chr17:45792455


GS19670 - var-GS19670-1100-36-ASM
hom G @ chr17:45792455


GS19700 - var-GS19700-1100-36-ASM
het G @ chr17:45792455


GS19703 - var-GS19703-1100-36-ASM
het G @ chr17:45792455


GS19704 - var-GS19704-1100-36-ASM
het G @ chr17:45792455


GS20502 - var-GS20502-1100-36-ASM
hom G @ chr17:45792455


GS20509 - var-GS20509-1100-36-ASM
het G @ chr17:45792455


Other external references

  • rs6504649
  • Score: 0 (benign)

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

Log in