PARP4 I81V - 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:

PARP4 I81V

(PARP4 Ile81Val)


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

  • C @ chr13:25075864: 3.1% (338/10758) in EVS
  • C @ chr13:23973863: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 3.1% (338/10758)

Publications
 

Genomes
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr13:25075864

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom C @ chr13:25075864

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr13:23973864

 

Other external references
 

    dbSNP
  • rs35200240
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (2 hits -- see all)
  • Poly [ADP-ribose] polymerase 4 - Homo sapiens (Human)
    PARP4. Synonyms: ADPRTL1, KIAA0177, PARPL. Organism. Homo sapiens (Human) ... particle, at least composed of MVP, PARP4 and one or more vault RNAs (vRNAs) ...
    www.uniprot.org/uniprot/Q9UKK3
  • UniProt: Q9UKK3
    AC Q9UKK3; O75903; Q14682; Q9H1M6; DT 26-SEP-2001, integrated into ... particle, at CC least composed of MVP, PARP4 and one or more vault RNAs (vRNAs) ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q9UKK3

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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