SYNE1 A8168S - 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:

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SYNE1 A8168S

(SYNE1 Ala8168Ser)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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

  • A @ chr6:152470752: 13.4% (1440/10758) in EVS
  • A @ chr6:152512444: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 13.4% (1440/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr6:152470752

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr6:152470752

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr6:152512445

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr6:152512445

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr6:152512445

 

Added in this revision:

GS19238 - var-GS19238-1100-36-ASM
het A @ chr6:152512445

 

NA18507

 

NA18517

 

NA19240

 

Other external references
 

    dbSNP
  • rs17082236
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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