SYNE1 N1915Shift - 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:

SYNE1 N1915Shift

(SYNE1 1915delNinsShift)


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

  • CA @ chr6:152779521: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.8% (1/128)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het CA @ chr6:152737829

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het CA @ chr6:152737829

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het CA @ chr6:152737829

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het CA @ chr6:152737829

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het CA @ chr6:152737829

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het CA @ chr6:152737829

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het CA @ chr6:152737829

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het CA @ chr6:152737829

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het CA @ chr6:152737829

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het CA @ chr6:152737829

 

GS18502 - var-GS18502-1100-36-ASM
het CA @ chr6:152779522

 

Other external references
 

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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