HBD N12K - 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:

HBD N12K

(HBD Asn12Lys)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(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
 

Other external references
 

    GeneTests
  • GeneTests records for the HBD gene
    Beta-Thalassemia
    Hemoglobin E
    Hemoglobin S Beta-Thalassemia
    Hemoglobin SC
    Hemoglobin SD
    Hemoglobin SO
    Hemoglobin SS
    Sickle Cell Disease
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HBD
    Web search results (4 hits -- see all)
  • img_1225.jpg
    Date: 27. 12. 2005 Views: 403. View Comments. cheap airline tickets paris ... ticket search engine, best fares seattle N12k P21y non stop flights from pbi, ...
    neonatus.net/gallery2/main.php?...&g2_itemId=6417
  • Download eps file Hi-Res Picture
    ... F0B2DEAF71E8DD119657E9758440F68514000000/100004000000/100002256,257,258,259,262, ... dict begin /Type /Metadata def /Subtype /XML def currentdict end /PUT ...
    pilotpen.eu/fileadmin/templates/scripts/dl.php?...
  • 弹性力学及有限元(电子教案)
    ªƒ£Γ*sRGB"*Θ pHYs***o¿d*PLTE ", **}IDATxφkÄ *αü° ... b*â/*Ç*H¿½àI*ñh@guɬjI°*¬lI8(V¥ä*D *gÇΩB**½â**H¥*δƒá*¥òH0ΦA*2ΦAp=É°"@α*q +3*π*ìN ...
    cwrh.scu.edu.cn/bkjx/kejian/txlx/txlxppt.ppt
  • Trip Table トリップ一覧 #nbsryw-#nbvnxx
    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。
    trip-table.com/.../6c5a538f4891a160b1f25607e03b18aa.html

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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