SEPN1 N467K - 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:

SEPN1 N467K

(SEPN1 Asn467Lys)


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 @ chr1:26140573: 62.9% (6612/10516) in EVS
  • Frequency shown in summary reports: 62.9% (6612/10516)

Publications
 

Genomes
 

 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom A @ chr1:26140573

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom A @ chr1:26140573

 

 

 

 

 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom A @ chr1:26140573

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom A @ chr1:26140573

 

 

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom A @ chr1:26140573

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom A @ chr1:26140573

 

 

 

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom A @ chr1:26140573

 

 

 

Other external references
 

    dbSNP
  • rs2294228
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the SEPN1 gene
    Congenital Fiber-Type Disproportion
    Multiminicore Disease
    Congenital Muscular Dystrophy with Early Spine Rigidity
    SEPN1-Related Congenital Fiber-Type Disproportion
    SEPN1-Related Multiminicore Disease
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SEPN1

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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