TOR1AIP1 Q293H - 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:

TOR1AIP1 Q293H

(TOR1AIP1 Gln293His)


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 @ chr1:179877780: 4.8% (517/10758) in EVS
  • C @ chr1:178144402: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 4.8% (517/10758)

Publications
 

Genomes
 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het C @ chr1:179877780

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr1:179877780

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr1:179877780

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr1:179877780

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr1:179877780

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr1:179877780

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr1:179877780

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr1:178144403

 

Other external references
 

    dbSNP
  • rs17279712
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.874 (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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