HBB E7K - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

HBB E7K

(HBB Glu7Lys)


You are viewing the latest version of this page, saved on November 29, 2013 at 9:22pm by Madeleine Ball.

Edited in this revision:

Short summary

This is also called the HB-C allele of hemoglobine. This variant causes a type of Sickle Cell anemia when homozygous or combined with another pathogenic variant. When combined with the more common HB-S (HBB-E7V) variant, this results in the Hemoglobin SC variant of Sickle Cell Anemia, which has some differences in susceptibilities and complications.

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

  • T @ chr11:5248233: 0.5% (52/10758) in EVS
  • Frequency shown in summary reports: 0.5% (52/10758)

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the HBB 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/HBB
    PolyPhen-2
  • Score: 0.012 (benign)
    Web search results (636 hits -- see all)
  • Koders Code Search: web2.eps
    Support Overview Getting Started Guide Feedback License Info ... u!!*#u!!*#u!!)ut!!*#u!s&B$!:Bgd7K3>e7Ke7K3>e7JZr`7K3;e7K3>e7K*5d 7K3;e7K3>e7K ...
    koders.com/noncode/fid7B9E1AA98A59E4533A6F91D3D5C5DA0341F...
  • good | Aeria Games
    Aeria Games offers free online MMORPG, flash, and web browser games. Free to download, Free to register, Free to play! Fastest Growing Community!
    profile.aeriagames.com/node/15022
  • Koders Code Search: web3.eps
    About. Contact. Site Map. Overview. License Info. Top Searches. Add search to your site ... 5d 7Jd#a7K*5h7Ke7K3;e7K3;e7K3;e7K*5d7K*5h7Ke7K3;e7=kJis+14&s*t~> n, ...
    koders.com/noncode/fidF9941697CE52C49A99A43B88BE911D92D67...
  • Free Rider 2 | Aeria Games
    English. English. Deutsch. English. Français. Türkçe. Polski. Español ... You Must Be Logged In To Leave A Comment. Login | Not a Member? | Register Now. Sending ...
    www.aeriagames.com/games/mini/sport/4456?page=6
  • not finished - Free Rider
    15 1i hl 1j,9h 1j a8 1f c3 e fb e,fa e m9 d,ma e np 1b oe 1k,of 1k p1 1r pm 22 qd 28 r7 2b s1 2c ss 2d tl 2b ue 29 v7 24 vs 1t 10h 1e 10u r 117 6,119 6 128 6,126 5...
    www.freerider-tracks.com/page/not+finished
  • Freerider 1 and 2 Thread Cont. - Page 123 - Pinkbike.com Forum
    Freerider 1 and 2 Thread Cont. in Computers, Games & Technology
    pinkbike.com/forum/listcomments/?threadid=62026&pagenum=123
  • Charlz95's tracks (auto and manual) - Free Rider
    Amazing track for MTB (1) (auto) -18 1i 18 1i,c7 1d4 c6 1dn bq 1e7 b3 1e4,kq 1in ko 1jc k4 1jn,k3 1jk je 1jk,-m 4gh -j 4h5 2 4h7,ek 4rb ej 4rt dt 4s4,1l 5p9 1s 5ps...
    freerider-tracks.com/page/Charlz95's+tracks+(auto+and+man...
  • *αí*ß>* *¬*¼*
    C*j*1A**"Qaq**2üæ*#$%&36BRTruòí457CDEFVbcestéâàôöú*'SUdäÆó(ß 8ñGπΣ * 1AQa"2qüí**Bbæß ...
    www.uwsp.edu/natres/nres250/Overheads/4.2_Legislation.ppt
  • rconnrocks' profile on Kongregate
    rconnrocks's Kongregate profile – Check out rconnrocks's favorite free games, achievements and friends.
    www.kongregate.com/accounts/rconnrocks
  • aaaoe.com/search/index.php?offer=2&p=Chinese+White+Crape&...
    ... R8q#/###+ [#N9l] => 101HZM#N9l#/###+ [#My0] => 101HZM#My0#0###+ [#E7k] => 101HZM ... 9pj#/###+ [#4lV] => 101HZM#4lV#/###+ [#hbb] => 101HZL#hbb#/###+ [#bx1] => 101HZL ...
    aaaoe.com/search/index.php?offer=2&p=Chinese+White+Crape&...

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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