POLN P315S - 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:

POLN P315S

(POLN Pro315Ser)


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

  • 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)

Publications
 

Genomes
 

 

Other external references
 

    dbSNP
  • rs11725880
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • 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 ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=POLN
  • 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 ...
    www.uniprot.org/uniprot/Q7Z5Q5
  • .:: 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 ...
    dna.uio.no/repairSNP/getsnps.php?gene=POLN
  • UniProt: Q7Z5Q5
    ... Full=DNA polymerase nu; DE EC=2.7.7.7; GN Name=POLN; OS Homo sapiens (Human) ... Schuffert A., Wood R.D.; RT "POLN, a nuclear PolA family DNA polymerase ...
    www.genome.jp/dbget-bin/www_bget?uniprot+Q7Z5Q5
  • 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 ...
    healthy-ball.com/2/02194952.nhk

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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