ADRA2B G211A - 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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Curation:
Currentness:

ADRA2B G211A

(ADRA2B Gly211Ala)


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

  • G @ chr2:96781257: 3.9% (398/10154) in EVS
  • G @ chr2:96144983: 1.6% (2/126) in GET-Evidence
  • Frequency shown in summary reports: 3.9% (398/10154)

Publications
 

Genomes
 

 

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr2:96144984

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr2:96144984

 

Other external references
 

    dbSNP
  • rs9333568
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (8 hits -- see all)
  • ADRA2B Gene - GeneCards | ADA2B Protein | ADA2B Antibody
    summary for ADRA2B: Adrenergic alpha2 receptors (alpha2-adrenoceptors) are members of the ... ADRA2B Gene in genomic location: bands according to Ensembl, locations according ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=ADRA2B
  • Alpha-2B adrenergic receptor - Homo sapiens (Human)
    G A: dbSNP rs9333568. Ref.6. VAR_025099. Natural variant. 301 – 303. 3 ... "Isolation of complete coding sequence for adrenergic receptor alpha 2B (ADRA2B) ...
    www.uniprot.org/uniprot/P18089
  • Variants in ADRA2B [PharmGKB]
    Variants on ADRA2B. Variants: Non-coding/Unknown Non-synonymous Synonymous Reported ... All features below come from the default feature set. Alleles are reported on the strand ...
    pharmgkb.org/views/reports/...?geneId=PA36

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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