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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DLG1 P921L

(DLG1 Pro921Leu)

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 @ 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)



Other external references

  • rs34492126
    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 ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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