KRT39 L383M - 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:

KRT39 L383M

(KRT39 Leu383Met)


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 @ chr17:39116603: 3.0% (324/10750) in EVS
  • T @ chr17:36370128: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 3.0% (324/10750)

Publications
 

Genomes
 

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr17:36370129

 

GS18537 - var-GS18537-1100-36-ASM
hom T @ chr17:36370129

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr17:36370129

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr17:36370129

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr17:36370129

 

Other external references
 

    dbSNP
  • rs17843023
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.993 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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