HBA2 N9K - 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:

HBA2 N9K

(HBA2 Asn9Lys)


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
 

    Web search results (7 hits -- see all)
  • Mendelian Inheritance in Man Document Reader
    Since the normal HBA1 and HBA2 genes encode an identical alpha globin, ... Since the normal HBA1 and HBA2 genes encode an identical alpha globin, these ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+141800
  • Paola Gambaro, Università di Genova Facoltà di Architettura
    9<| ¼£ìü&í α*JFIF**** >CREATOR: gd-jpeg v1.0 (using IJG JPEG v62), default ... 7),01444*'9=82<.342 C* *2!*!22222222222222222222222222222222222222222222222222 *á ...
    chiossone.net/file/convegno22_10/SLIDE/...
  • OMIM: 141850
    Furthermore, they confirmed location of the mutation in the HBA2 gene. ... in codon 9 of the HBA2 gene resulting in an asn9-to-lys (N9K) change. ...
    www.genome.jp/dbget-bin/www_bget?mim:141850
  • Mendelian Inheritance in Man Document Reader
    0003 HEMOGLOBIN KOYA DORA HBA2, TER142SER Excessive length of alpha-like chain ... in codon 9 of the HBA2 gene resulting in an asn9-to-lys (N9K) change. ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+141850
  • FORMAT : 86 VERSION: 9 HDRBLKS: 15 TYPE :
    FORMAT : 86 VERSION: 9 HDRBLKS: 15 TYPE :Scan frame SITE :Indiana University ... 1 TITLE :Uriah Kilgore TITLE :Uriah Kilgore TITLE : TITLE : TITLE : TITLE : ...
    cima1.uits.iupui.edu/cima/iumsc_frames/06140/0614013.191
  • Trip Table トリップ一覧 #kiafeyy-#kiaiaxz
    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/.../cab0934d07bf460eae5bf44693c32b65.html
  • Trip Table トリップ一覧 #EJAIUOU-#EJALQNV
    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/.../a874c24b2665ffe7e1896f59cf9844e0.html

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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