TG G815R - 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!


TG G815R

(TG Gly815Arg)

Short summary


Variant evidence
Computational -
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

  • A @ chr8:133900495: 3.3% (351/10758) in EVS
  • A @ chr8:133969676: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 3.3% (351/10758)




hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr8:133900495


hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr8:133900495


GS18501 - var-GS18501-1100-36-ASM
het A @ chr8:133969677


GS18504 - var-GS18504-1100-36-ASM
hom A @ chr8:133969677


GS19020 - var-GS19020-1100-36-ASM
het A @ chr8:133969677


GS19025 - var-GS19025-1100-36-ASM
het A @ chr8:133969677


GS19026 - var-GS19026-1100-36-ASM
het A @ chr8:133969677


Other external references

  • rs16904774
  • Score: 0 (benign)
    Web search results (3 hits -- see all)
  • Lsongs, - File 1 of 1: python2.3.rar (29/41)
    This is Interesting: Free IT Magazines Now Free shipping to California ... 9SB!$OCD>%O`X)/T-W>? M*!!VGRK\ZK/5O33&8I!':\(6<.>%OHX)/_C;>;$C6XVI#@Z@:2$\%8(G)N: ...
  • Trip Table トリップ一覧 #lbjhnsq-#lbjkjrr
    It is a list of the TRIP displayed in a certain BBS.よくある掲示板で表示されるトリップの一覧(例)です。

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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