CRHR2 E220D - 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:

CRHR2 E220D

(CRHR2 Glu220Asp)


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 @ chr7:30702347: 3.0% (324/10758) in EVS
  • G @ chr7:30668871: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 3.0% (324/10758)

Publications
 

Genomes
 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr7:30668872

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr7:30668872

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr7:30668872

 

Other external references
 

    dbSNP
  • rs34625936
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (5 hits -- see all)
  • CRHR2 Gene - GeneCards | CRFR2 Protein | CRFR2 Antibody
    Gene Wiki entry for CRHR2 (Corticotropin releasing hormone receptor 2) ... CRHR2 Gene in genomic location: bands according to Ensembl, locations ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=CRHR2
  • Corticotropin-releasing factor receptor 2 precursor - Homo ...
    CRHR2. Synonyms: CRF2R, CRH2R. Organism. Homo sapiens (Human) [Complete ... 1. E D: dbSNP rs34625936. VAR_049455. Experimental info. Sequence conflict. 185. 1. R H in ...
    www.uniprot.org/uniprot/Q13324
  • UniProt: Q13324
    DT 30-MAY-2000, sequence version 2. DT 23-MAR-2010, entry version 86. ... GeneCards; GC07M030658; -. DR H-InvDB; HIX0033520; -. DR HGNC; HGNC:2358; CRHR2. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q13324
  • omega data
    ... A2M ENSG00000175899 ENST00000318602 4.6672 p>0.05 2.247 rs226405 12 9139500 ... A2M ENSG00000175899 ENST00000318602 0.0000 p>0.05 0.128 rs34470791 17 ...
    bioinfo.cipf.es/francisco/project/replicabilty/...

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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