PCK2 R521H - 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:

PCK2 R521H

(PCK2 Arg521His)


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 @ chr14:24572812: 9.0% (964/10758) in EVS
  • A @ chr14:23642651: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 9.0% (964/10758)

Publications
 

Genomes
 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr14:24572812

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr14:24572812

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr14:24572812

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr14:24572812

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr14:24572812

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr14:24572812

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr14:24572812

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr14:23642652

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr14:23642652

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr14:23642652

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr14:23642652

 

Other external references
 

    dbSNP
  • rs35618680
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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