KRT16 R41C - 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 R41C

(KRT16 Arg41Cys)


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 @ chr17:39768820: 1.6% (174/10602) in EVS
  • Frequency shown in summary reports: 1.6% (174/10602)

Publications
 

Genomes
 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr17:39768820

 

Other external references
 

    dbSNP
  • rs111383277
    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: 0.928 (probably damaging)
    Web search results (1 hit -- see all)
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... P80365 R186C 184 VAR_015637 PKC (0.550) AME 7593417 9661590 PKLR P30613 D390N ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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