TJP1 R1083C - GET-Evidence

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

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TJP1 R1083C

(TJP1 Arg1083Cys)

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 @ chr15:30011099: 0.2% (23/10314) in EVS
  • A @ chr15:27798390: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.2% (23/10314)



hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr15:30011099


Other external references

  • rs35392254
  • Score: 0.97 (probably damaging)
    Web search results (1 hit -- see all)
  • TJP1 Gene - GeneCards | ZO1 Protein | ZO1 Antibody
    TJP1 Gene in genomic location: bands according to Ensembl, locations ... Cell Signaling Technology (CST) Antibodies for TJP1 (ZO-1) Search for antibodies at Abcam ...

Other in silico analyses

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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