HRNR Y2746H - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

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HRNR Y2746H

(HRNR Tyr2746His)


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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 @ chr1:152185869: 25.8% (2264/8762) in EVS
  • Frequency shown in summary reports: 25.8% (2264/8762)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het GTG @ chr1:152185867

 

 

Added in this revision:

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het GTG @ chr1:152185867

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het GTG @ chr1:152185867

 

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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