KRT13 A146G - 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:

KRT13 A146G

(KRT13 Ala146Gly)


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

  • C @ chr17:39661366: 7.5% (810/10758) in EVS
  • C @ chr17:36914891: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 7.5% (810/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr17:39661366

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr17:39661366

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr17:39661366

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr17:39661366

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr17:39661366

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het C @ chr17:39661366

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr17:39661366

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr17:39661366

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr17:39661366

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr17:36914892

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr17:36914892

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr17:36914892

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr17:36914892

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr17:36914892

 

Other external references
 

    dbSNP
  • rs760134
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (1 hit -- see all)
  • Type III 97%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Polymorphism (dbSNP:rs17854920) 15489334 KRT13 P13646 L115P 117 VAR_016037 STE20 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_97.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in