SLCO1B1 L643F - 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.

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Curation:
Currentness:

SLCO1B1 L643F

(SLCO1B1 Leu643Phe)


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 @ chr12:21391976: 5.9% (628/10670) in EVS
  • C @ chr12:21283242: 2.6% (2/78) in GET-Evidence
  • Frequency shown in summary reports: 5.9% (628/10670)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr12:21391976

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr12:21391976

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr12:21391976

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr12:21283243

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr12:21283243

 

Other external references
 

    dbSNP
  • rs34671512
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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