PRSS12 R833Q - 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:

PRSS12 R833Q

(PRSS12 Arg833Gln)


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 @ chr4:119203221: 4.7% (503/10758) in EVS
  • T @ chr4:119422668: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 4.7% (503/10758)

Publications
 

Genomes
 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr4:119203221

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr4:119203221

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr4:119203221

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr4:119203221

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr4:119422669

 

Other external references
 

    dbSNP
  • rs17594503
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.982 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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