SYNE2 W4001Q - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!


SYNE2 W4001Q

(SYNE2 Trp4001Gln)

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

  • CA @ chr14:63629843: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 7.8% (10/128)



hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het CA @ chr14:64560091


hu43860C - CGI sample GS00253-DNA_A01_200_37
het CA @ chr14:64560091



huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het CA @ chr14:64560091


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het CA @ chr14:64560091


GS06994 - var-GS06994-1100-36-ASM
het CA @ chr14:63629844


GS18502 - var-GS18502-1100-36-ASM
het CA @ chr14:63629844


GS18504 - var-GS18504-1100-36-ASM
het CA @ chr14:63629844


GS19026 - var-GS19026-1100-36-ASM
het CA @ chr14:63629844


GS19239 - var-GS19239-1100-36-ASM
het CA @ chr14:63629844


GS19240 - var-GS19240-1100-36-ASM
het CA @ chr14:63629844


GS21767 - var-GS21767-1100-36-ASM
het CA @ chr14:63629844


Other external references

  • rs2792205

Other in silico analyses

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 0

Edit history

Gene search

"GENE" or "GENE A123C":

Log in