KRT1 A454S - 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:

KRT1 A454S

(KRT1 Ala454Ser)


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 @ chr12:53070174: 2.1% (223/10758) in EVS
  • A @ chr12:51356440: 0.9% (1/110) in GET-Evidence
  • Frequency shown in summary reports: 2.1% (223/10758)

Publications
 

Genomes
 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr12:53070174

 

Other external references
 

    dbSNP
  • rs17678945
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (1 hit -- see all)
  • identification of genetic variants influencing prognosis
    Gabrielle S Sellick, Rachel Wade, Susan Richards, David G. Oscier, Daniel Catovsky and ... KRT1. A454S. rs17678945 G 395. 1.59 1.03 2.44. 0.035. Polymerase (DNA directed), beta. POLB ...
    bloodjournal.hematologylibrary.org/cgi/reprint/...

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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