PER2 V903I - 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:

PER2 V903I

(PER2 Val903Ile)


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 @ chr2:239161957: 3.2% (348/10758) in EVS
  • T @ chr2:238826695: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 3.2% (348/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr2:239161957

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr2:239161957

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr2:239161957

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr2:239161957

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr2:239161957

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr2:238826696

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr2:238826696

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr2:238826696

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr2:238826696

 

Other external references
 

    dbSNP
  • rs35333999
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.884 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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