KCNJ12 E378K - 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:

KCNJ12 E378K

(KCNJ12 Glu378Lys)


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

  • None available.

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr17:21319786

 

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr17:21319786

 

hu34D5B9 - hu34D5B9 exome
het A @ chr17:21319786

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr17:21319786

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr17:21319786

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr17:21319786

 

Other external references
 

    dbSNP
  • rs78547883
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.314 (possibly damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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