KRT16 R418C - 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:

KRT16 R418C

(KRT16 Arg418Cys)


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 @ chr17:39766611: 0.5% (55/10758) in EVS
  • A @ chr17:37020136: 2.4% (3/126) in GET-Evidence
  • Frequency shown in summary reports: 0.5% (55/10758)

Publications
 

Genomes
 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr17:39766611

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr17:39766611

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr17:39766611

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr17:37020137

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr17:37020137

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr17:37020137

 

NA12878

 

Other external references
 

    dbSNP
  • rs56259134
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the KRT16 gene
    Pachyonychia Congenita
    Pachyonychia Congenita Type 1
    Nonepidermolytic Palmoplantar Hyperkeratosis
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT16
    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in