KCNJ12 E289Q - 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 E289Q

(KCNJ12 Glu289Gln)


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 @ chr17:21319519: 1.6% (171/10758) in EVS
  • C @ chr17:21260111: 19.4% (19/98) in GET-Evidence
  • Frequency shown in summary reports: 1.6% (171/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr17:21319519

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het C @ chr17:21319519

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr17:21319519

 

hu0D879F

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr17:21319519

 

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr17:21319519

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr17:21319519

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr17:21319519

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr17:21319519

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr17:21319519

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr17:21319519

 

huE80E3D

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr17:21319519

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr17:21260112

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr17:21260112

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr17:21260112

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr17:21260112

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr17:21260112

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr17:21260112

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr17:21260112

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr17:21260112

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr17:21260112

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr17:21260112

 

Other external references
 

    dbSNP
  • rs78113532
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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