DLG1 P921L - 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:

DLG1 P921L

(DLG1 Pro921Leu)


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 @ chr3:196771513: 3.6% (384/10758) in EVS
  • A @ chr3:198255909: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 3.6% (384/10758)

Publications
 

Genomes
 

Other external references
 

    dbSNP
  • rs34492126
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (3 hits -- see all)
  • DLG1 Gene - GeneCards | DLG1 Protein | DLG1 Antibody
    DLG1 Gene in genomic location: bands according to Ensembl, locations according ... Millipore Mono- and Polyclonal Antibodies for the study of DLG1 ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=DLG1
  • Disks large homolog 1 - Homo sapiens (Human)
    The L27 domain may regulate DLG1 self-association. The N-terminal alternatively spliced ... and DLG1 that regulates the stability and localization of DLG1 to ...
    www.uniprot.org/uniprot/Q12959
  • UniProt: Q12959
    ... RT and DLG1 that regulates the stability and localization of DLG1 to cell RT junctions. ... Forms a tripartite complex composed of CC DLG1, MPP7 and LIN7 (LIN7A or LIN7C). May ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q12959

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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