MRC2 SI275RS - 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:

MRC2 SI275RS

(MRC2 275_276delSIinsRS)


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

  • None available.

Publications
 

Genomes
 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het ATC @ chr17:60743946

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het ATC @ chr17:60743946

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het ATC @ chr17:60743946

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het ATC @ chr17:60743946

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het ATC @ chr17:60743946

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het ATC @ chr17:60743946

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het ATC @ chr17:60743946

 

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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