ST13 M297I - 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:

ST13 M297I

(ST13 Met297Ile)


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

  • T @ chr22:41223190: 7.0% (751/10754) in EVS
  • T @ chr22:39553135: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 7.0% (751/10754)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr22:41223190

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr22:41223190

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr22:41223190

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr22:41223190

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr22:41223190

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr22:41223190

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr22:39553136

 

Other external references
 

    dbSNP
  • rs710193
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.914 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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