SYNE2 R6720W - 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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SYNE2 R6720W

(SYNE2 Arg6720Trp)

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

  • T @ chr14:64688390: 0.3% (36/10758) in EVS
  • Frequency shown in summary reports: 0.3% (36/10758)



Other external references

    Web search results (1 hit -- see all)
  • Nesprin-2 - Homo sapiens (Human)
    SYNE2. Synonyms: KIAA1011, NUA. Organism. Homo sapiens (Human) [Complete ... Defects in SYNE2 are the cause of Emery-Dreifuss muscular dystrophy type 5 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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