OTOR M1T - 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:

OTOR M1T

(OTOR Met1Thr)


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

  • C @ chr20:16729048: 3.2% (346/10758) in EVS
  • C @ chr20:16677047: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 3.2% (346/10758)

Publications
 

Genomes
 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr20:16729048

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr20:16729048

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr20:16677048

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr20:16677048

 

Other external references
 

    dbSNP
  • rs17686437
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.946 (probably damaging)
    Web search results (41 hits -- see all)
  • Transportation
    OTOR. H. OMES. O N T A R I O P R O D U C T I O N G U I D E 2 0 0 9 – 2 0 ... OTOR. H. OMES. Advantage Car & Truck Rentals. 115 Sherbourne Avenue, Toronto, ON M5A 2R3 ...
    www.omdc.on.ca/AssetFactory.aspx?did=5627
  • Blogging for Beginners & Using iTunes and YouTube in Your ...
    *αí*ß>* *â÷@**@*±@*'α'ß'Γ'π'Σ'σ'µ'τ'Φ'Θ'Ω'δ''φ'ε'''±'''ⁿ'²' ... 4éπÄ8¡BG%D₧*W+XoTor"E*LX*3°ª¬£¥¼Fo*"* ₧H***dù*öäÑ ...
    web.carteret.edu/keoughp/NC3ADL/KeoPresentfinal.ppt
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... rs17686437. rs17686569*Q484R. rs17688567*P114S NM_032156 NP_115532 ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Media Kit Guts
    About CHRR and editorial mandate. Contact: Melanie Flores. Advertising ... M1T 3V4. Tel: (416) 298-5141. Fax: (416) 298-5031. Personnel: Advertising Sales Manager: ...
    hrreporter.com/DynamicData/HRAdvertisePDFs/...
  • Download
    u. u*u*u*u*u*u*u*u*u*u*u*u*u*u*u*u*u*u*u u!u"u#u$u%u&u'u(u)u*u+u,u-u.u ... b****j*(****1**r*2**Éçi**ñ*B@'**B@'*Adobe Photoshop CS3 Macintosh2009:05:14 15: ...
    www.menurice.com/uploadedFiles/What is Rice.download.ppt
  • Black Hawk County
    IHDR*îy*Ñsü**gAMAêòÿª pHYs.#.#*xÑ?v*ÆIDATx£φr*W*E*σé±Öä ... ôZòîδäWÇBU_Qu"t"ÆkÅv"Q:kΘ¼Ñs N}8R½otor*¡^¼: í*T*ô¢ YKg¡.¥KXΩS#uu7=ßLoΦ¼ÑVù%#æ*ÿ ...
    www.extension.iastate.edu/communities/ftppt/FTBlackHawk.ppt
  • Periodoncia
    para los estudiantes de estomatologia. odontologia estomatologia periodoncia ... Send me the Scribd Newsletter, and occasional account related communications. ...
    www.scribd.com/doc/6145527/Periodoncia
  • Szazs-Laing-Δύο Δοκίμιια για την Ψυχιατρική Καταπίεση
    Szazs-Laing-Δύο Δοκίμιια για την Ψυχιατρική Καταπίεση. Science-Social-Science
    www.scribd.com/doc/4663110/SzazsLaing-
  • ~ro~~t
    d ~{otor Car. 1. sisted. b\ membl'rs. of. Gro"e. I. A G Gabrl,,1. natIOnally ... nnd ..r l'~""M1t '" ". rIH~SE~T (,O~CLRT. r.rl"~ " 1r! h. 1. I .. m ...
    digitize.gp.lib.mi.us/digitize/newspapers/.../1948-12-23.pdf
  • LMO # 300 [teaser poster_ 04] - La Mierda Ocurre | Grupos de ...
    Ver analizado - Mostrar sólo mensaje de texto. Received: by 10.213.104. ... online, recompensado en los premios que otor= ga EXPOC=D3MIC '09. Recordad, ...
    groups.google.es/group/la-mierda-ocurre/msg/...?dmode=source

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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