FGA I6V - 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!

Curation:
Currentness:

FGA I6V

(FGA Ile6Val)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

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

 

Allele frequency

  • None available.

Publications
 

Genomes
 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr4:155511824

 

Other external references
 

    dbSNP
  • rs2070025
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.055 (benign)
    Web search results (893 hits -- see all)
  • 5N*xφW]hTG*>wΩDfªÜçM¢öHΦYäR5?&ÆÆXà}hàìε#FYÜà*Θâ°çbêQ...
    Y¢}{¢Ωy.*W*}¡-i²-{¬2¢εàj²₧¼·*±k*6è}9ªGτòOÅUÉ*óε13ƒ*¡ⁿΩÆcΘwò±Y;Ä*úε"¢*·ºµa²?O ... Kτ5âZ.vΘΓìNm*ò²*δ>N~,É9oq¢Fgâ*÷ΦIpW.òD*1IÄò ...
    mwcog.org/uploads/committee-documents/...
  • Building Blocks of Outreach
    ô÷LÅ¢cG-ë*4?g!è*½f묭N·Å6ªT*olÿ¡bd¢uσï6v**½nw¡î=r;$Öôb9^*yºë£'Üí¥SÜ ...
    www.scdhec.gov/environment/water/ms4/docs/blocks.ppt
  • Max1233 - Profile - Free Rider
    Free Rider - Max1233 - Profile ... Registered Users can edit pages, add images, and join discussions. Read more about site and user permissions on this site at Wetpaint Central. ...
    www.freerider-tracks.com/account/Max1233
  • Freerider 1 and 2 thread - Page 822 - Pinkbike.com Forum
    Freerider 1 and 2 thread in Computers, Games & Technology ... http://s412.photobucket.com/albums/pp204/Szafirowski/?action=view&current=Picture2-1.png&t=1220904076769 ...
    pinkbike.com/forum/listcomments/?threadid=176&pagenum=822
  • *αí*ß>* *F*í*Dó*~á*...
    ô÷LÅ¢cG-ë*4?g!è*½f묭N·Å6ªT*olÿ¡bd¢uσï6v**½nw¡î=r;$Öôb9^*yºë£'Üí¥SÜ ...
    clu-in.org/conf/tio/gettinginstep_072005/prez/...
  • click here (for the MS PowerPoint Version)
    ... l**mÄ{[çÆ*,fd*9ræ*°}*Γ φX7% ΘÉσUù**IJK¬*kòé;¥CÑPΦ*ε²+ù6-*¡é]Z^*2[W$~%µ*w½%I6V\·τ ...
    www.3pa.org/Inc/Platt Park Pattern Book.ppt
  • top-down.pdf
    "rer)i6v'XIa¤…¡ se™"‚"‹&ƒrqcdre•‡re•d&"recdr# å. v'Xiad…¡ g#i" vwxI…r ... fga. ˆg@ c. f8. 5. i67grawg#i"Ig c" æycfcd…dcAˆga. W. B†@–f9f. W. a. 4. 6. 6 ...
    www.predictionworks.com/Assets/reference/top-down.pdf
  • Free Rider 2 | Aeria Games
    You Must Be Logged In To Leave A Comment. Login | Not a Member? ... 18 1i 18 1i##G 0 -1s 5k,G 18 -u 8e,G -18 -u 2q,G 0 0 b8,B 18 -2q 8e,B 1i -2g 8e, ...
    aeriagames.com/games/mini/sport/4456/Free_Rider_2?page=101
  • Off-Site Student Services South Valley Benchmarks 2006-07
    ùτ*ÉÄN0Θ£\\τKÑEo;I %ù%ì6*FgaaùùΦ~æíX*%Æ*ù2}tdªf*Rv(m*"*t[***û$*ÉßL ...
    slcc.edu/deanofses/docs/Off-Site_Student_Services_South_V...
  • www.cse.ohio-state.edu/~weide/rsrg/documents/TR14/chapter2.pdf
    QSRUfvh„fGa—h„fCdf'syƒ€qTna7xWVdxWyeX0a—dgfv€•TWt}d„RUfCoh•f0V„R˜oyey€˜Xvy ... xby‰hsXvy‰rscUxuf ̧i6V„y7edf'ga7h•f"X0y‰rsc¡y‰tUf0twd„V0{RUy"'gfpm ...
    cse.ohio-state.edu/~weide/rsrg/documents/TR14/chapter2.pdf

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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