SYNE2 Y4015H - 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!

Curation:
Currentness:

SYNE2 Y4015H

(SYNE2 Tyr4015His)


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

  • C @ chr14:64560133: 0.0% (2/10758) in EVS
  • C @ chr14:63629885: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.0% (2/10758)

Publications
 

Genomes
 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr14:64560133

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr14:63629886

 

Other external references
 

    dbSNP
  • rs75665958
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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