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!

Curation:
Currentness:

SYNE2 W4001Q

(SYNE2 Trp4001Gln)


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

Publications
 

Genomes
 

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
 

    dbSNP
  • rs2792205
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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