POLN P315S - GET-Evidence

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

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(POLN Pro315Ser)

You are viewing an old version of this page that was saved on December 27, 2009 at 4:02pm by Genome Importing Robot.

Added in this revision:

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • A @ chr4:2195009: 0.9% (101/10758) in EVS
  • A @ chr4:2164806: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.9% (101/10758)



Other external references

  • Score: 0.688 (possibly damaging)
    Web search results (5 hits -- see all)
  • POLN Gene - GeneCards | DPOLN Protein | DPOLN Antibody
    Regulatory transcription factor binding sites in the POLN gene upstream (promoter) region ... POLN Gene in genomic location: bands according to Ensembl, locations ...
  • DNA polymerase nu - Homo sapiens (Human)
    POLN. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... "POLN, a nuclear PolA family DNA polymerase homologous to the DNA cross-link sensitivity ...
  • .:: repairsnps ::.
    Search results for 'POLN': Gene: POLN. Name: polymerase (DNA directed) ... 1. rs9328764. NP_861524. C>T. R>C. aa-position:425 [ SNP analysis ] 2. rs11725880. NP_861524 ...
  • UniProt: Q7Z5Q5
    ... Full=DNA polymerase nu; DE EC=; GN Name=POLN; OS Homo sapiens (Human) ... Schuffert A., Wood R.D.; RT "POLN, a nuclear PolA family DNA polymerase ...
  • 2194952 - NHK - Newborn, healthy ball kingdom
    SNP linked to Gene POLN(geneID ... 2194952. 999. rs10002583. 0.418. ... 943. rs11725880 ... http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=353497. Assistant ...

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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