GPT H14N - 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:

GPT H14N

(GPT His14Asn)


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

  • A @ chr8:145729727: 38.2% (4107/10754) in EVS
  • A @ chr8:145700534: 28.1% (36/128) in GET-Evidence
  • Frequency shown in summary reports: 38.2% (4107/10754)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr8:145729727

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom A @ chr8:145729727

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom A @ chr8:145729727

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr8:145729727

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
hom A @ chr8:145729727

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr8:145729727

 

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom A @ chr8:145729727

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom A @ chr8:145729727

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr8:145729727

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr8:145729727

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr8:145729727

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr8:145729727

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr8:145729727

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr8:145729727

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr8:145729727

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr8:145729727

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom A @ chr8:145729727

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr8:145729727

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr8:145729727

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom A @ chr8:145729727

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr8:145729727

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr8:145729727

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr8:145700535

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr8:145700535

 

GS10851 - var-GS10851-1100-36-ASM
hom A @ chr8:145700535

 

GS12004 - var-GS12004-1100-36-ASM
hom A @ chr8:145700535

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr8:145700535

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr8:145700535

 

GS18526 - var-GS18526-1100-36-ASM
hom A @ chr8:145700535

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr8:145700535

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr8:145700535

 

GS18956 - var-GS18956-1100-36-ASM
hom A @ chr8:145700535

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr8:145700535

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr8:145700535

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr8:145700535

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr8:145700535

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr8:145700535

 

Other external references
 

    dbSNP
  • rs1063739
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (17 hits -- see all)
  • 985
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    www.bawonline.com/spec/KNITS/985 CUST.mht
  • DutchConnection voor alle info over Digitale Fotografie ...
    Canon introduceert de EOS 300D 6,3 megapixel digitale spiegelreflexcamera; De ... Deze lichtste en meest compacte EOS camera ooit zal een adviesprijs van € 1.179, ...
    dutchconnection.org/modules.php?name=News&file=article&...
  • HW1_sols.mht
    <!DOCTYPE xhtml PUBLIC "-//W3C//DTD XHTML 1.0 Transitional//EN" "http: ... { margin:0; padding:0 ; BACKGROUND-COLOR: #999999 } .VisiblePage { OVERFLOW: hidden; ...
    spider.cs.ntou.edu.tw/twp/class/Electronic971/HW1_sols.mht
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    Если вы видите это сообщение, значит, данный обозреватель или ... Загрузите обозреватель, поддерживающий веб-архивы, например Windows® Internet ...
    www.oilfontan.ru/4q2007.mht
  • Pterophyllum scalare (Scalare)
    Pterophyllum scalare (Scalare) ... free lesbian video zOWe Y8G Nude Pics Of Girls Next Door QDnm gpT, erotica videos RF9R dYa5 In Her Fat Ass 4msZ z5C, squirt org ...
    www.tursiope.com/modules.php?name=News&file=article&sid=56
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    www.clannam.com/modules.php?name=News&file=article&sid=43
  • Vogido 6 - Programma zondag 7 december.
    Vogido 6, vriendenelftal sinds heel wat jaartjes ... A Dog Qc7g cK9q [productosomnilife.com], job information h14n fsP Nude Pics Of Gwen Stefani 2jM 4RYw [www. ...
    vogido5.nl/website/modules.php?name=News&file=article&sid=47
  • Compositions and methods related to modified retroviral ...
    Embodiments of the invention include compositions comprising and methods utilizing a retroviral integrase complex comprising a recombinant integrase having a domain ...
    www.freepatentsonline.com/7470777.html
  • ¡¶'ų¡--µç"ú¡· ˵Ã÷Êé ̧½Í¼µÚÆßͼ [WiredBox.Net - Office ...
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    www.wiredbox.net/Forum/Thread105635___%C3%9F.aspx
  • Claims
    Compositions and methods related to modified retroviral vectors for restricted, ... Specific modifications of FIV IN can include a H14N and E170A modifications. ...
    patentlens.net/textserver/getfulltext.html?patent=US_7470777

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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