SYNE2 I2564V - 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 I2564V

(SYNE2 Ile2564Val)


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

  • G @ chr14:64518321: 2.2% (204/9436) in EVS
  • G @ chr14:63588073: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 2.2% (204/9436)

Publications
 

Genomes
 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het G @ chr14:64518321

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr14:64518321

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het G @ chr14:64518321

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr14:63588074

 

Other external references
 

    dbSNP
  • rs11628107
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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