ZCWPW1 T153A - GET-Evidence

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

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Curation:
Currentness:

ZCWPW1 T153A

(ZCWPW1 Thr153Ala)


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 @ chr7:100014711: 4.5% (444/9822) in EVS
  • C @ chr7:99852646: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 4.5% (444/9822)

Publications
 

Genomes
 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr7:100014711

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het C @ chr7:100014711

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr7:100014711

 

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr7:99852647

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr7:99852647

 

Other external references
 

    dbSNP
  • rs6465770
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (4 hits -- see all)
  • ZCWPW1 Gene - GeneCards | ZCPW1 Protein | ZCPW1 Antibody
    ZCWPW1 Gene in genomic location: bands according to Ensembl, ... for ZCWPW1 gene (According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=ZCWPW1
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k ... 0;\-"ú"#,##0*"ú"#,##0;[Red]\-"ú"#,##0*"ú"#,##0.00;\-"ú"#,##0.00**#*"ú"#,##0.00; ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. MutDB Position: rs6465770 ... Back: Gene: ZCWPW1 -> Gene Index: Z. Home. MUTDB. Home About MutDB. SNP ...
    mutdb.org/cgi-bin/mutdb.pl?snp=rs6465770&...&rsid=NM_017984
  • UniProt: ZCPW1_HUMAN
    AC Q9H0M4; A8MVF5; Q8NA98; Q9BUD0; Q9NWF7; DT 31-AUG-2004, integrated into ... finger CW-type PWWP domain protein 1; GN Name=ZCWPW1; OS Homo sapiens (Human) ...
    www.genome.jp/dbget-bin/www_bget?uniprot:ZCPW1_HUMAN

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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