TARBP1 S678G - 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:

TARBP1 S678G

(TARBP1 Ser678Gly)


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 @ chr1:234582651: 29.5% (3170/10758) in EVS
  • C @ chr1:232649273: 18.1% (13/72) in GET-Evidence
  • Frequency shown in summary reports: 29.5% (3170/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr1:234582651

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr1:234582651

 

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr1:234582651

 

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom C @ chr1:234582651

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr1:234582651

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr1:234582651

 

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr1:234582651

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr1:234582651

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het C @ chr1:234582651

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr1:234582651

 

huAE6220

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr1:234582651

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom C @ chr1:234582651

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr1:234582651

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr1:232649274

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr1:232649274

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr1:232649274

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr1:232649274

 

GS19669 - var-GS19669-1100-36-ASM
hom C @ chr1:232649274

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chr1:232649274

 

GS19735 - var-GS19735-1100-36-ASM
hom C @ chr1:232649274

 

NA19240

 

Other external references
 

    dbSNP
  • rs4920246
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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