SLFN13 E652K - 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:

(See the latest version)

SLFN13 E652K

(SLFN13 Glu652Lys)


You are viewing an old version of this page that was saved on December 5, 2010 at 5:41pm 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

  • T @ chr17:33768354: 57.8% (6163/10670) in EVS
  • T @ chr17:30792466: 71.0% (88/124) in GET-Evidence
  • Frequency shown in summary reports: 57.8% (6163/10670)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr17:33768354

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom T @ chr17:33768354

 

Added in this revision:

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom T @ chr17:33768354

 

huE80E3D

 

NA12156

 

NA12878

 

NA18507

 

NA18956

 

NA19129

 

NA19240

 

snp-1

 

snp-2

 

snp-26

 

snp-27

 

snp-28

 

snp-29

 

snp-3

 

snp-30

 

snp-31

 

snp-32

 

snp-5

 

Other external references
 

    dbSNP
  • rs3744371
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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