KRT74 L178Q - 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:

KRT74 L178Q

(KRT74 Leu178Gln)


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 @ chr12:52966390: 17.6% (1896/10758) in EVS
  • T @ chr12:51252656: 13.3% (16/120) in GET-Evidence
  • Frequency shown in summary reports: 17.6% (1896/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr12:52966390

 

hu0D879F

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr12:52966390

 

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr12:52966390

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr12:52966390

 

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr12:52966390

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr12:52966390

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het T @ chr12:52966390

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr12:51252657

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr12:51252657

 

GS18558 - var-GS18558-1100-36-ASM
hom T @ chr12:51252657

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr12:51252657

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr12:51252657

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr12:51252657

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr12:51252657

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr12:51252657

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr12:51252657

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr12:51252657

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr12:51252657

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr12:51252657

 

Other external references
 

    dbSNP
  • rs11170176
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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