REXO4 T283A - 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:

REXO4 T283A

(REXO4 Thr283Ala)


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

  • C @ chr9:136277482: 6.3% (679/10758) in EVS
  • GGC @ chr9:135267300: 2.5% (3/122) in GET-Evidence
  • Frequency shown in summary reports: 6.3% (679/10758)

Publications
 

Genomes
 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het GGC @ chr9:136277480

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het GGC @ chr9:136277480

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het GGC @ chr9:136277480

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het GGC @ chr9:136277480

 

Other external references
 

    dbSNP
  • rs2285486
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs2285487
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.957 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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