NFKBIE H95Q - 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.

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(NFKBIE His95Gln)

Short summary


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


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • C @ chr6:44233216: 1.7% (128/7622) in EVS
  • C @ chr6:44341193: 4.2% (1/24) in GET-Evidence
  • Frequency shown in summary reports: 1.7% (128/7622)




GS06994 - var-GS06994-1100-36-ASM
het C @ chr6:44341194


Other external references

  • rs28362857
    Web search results (5 hits -- see all)
  • NFKBIE Gene - GeneCards | IKBE Protein | IKBE Antibody
    NFKBIE Gene in genomic location: bands according to Ensembl, locations according ... Antibodies for NFKBIE. R&D Systems Antibodies for NFKBIE (IkB-epsilon) ...
  • NF-kappa-B inhibitor epsilon - Homo sapiens (Human)
    NFKBIE. Synonyms: IKBE. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... NFKBIE. HPA. CAB010272. HPA002692. HPA005941. MIM. 604548. gene. PharmGKB. PA31603. GenAtlas ...
  • UniProt: O00221
    DT 23-SEP-2008, sequence version 3. DT 23-MAR-2010, entry version 95. DE RecName: ... DR CTD; 4794; -. DR GeneCards; GC06M044334; -. DR HGNC; HGNC:7799; NFKBIE. ...

Other in silico analyses

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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