KCNJ12 I100V - 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 I100V

(KCNJ12 Ile100Val)


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

  • CG,TG @ chr17:21259543: 50.0% (40/80) in GET-Evidence
  • Frequency shown in summary reports: 50.0% (40/80)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr17:21318952

 

hu034DB1

 

hu0D879F

 

 

hu34D5B9 - hu34D5B9 exome
het G @ chr17:21318952

 

hu43860C

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het G @ chr17:21318952

 

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het G @ chr17:21318952

 

huAE6220

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr17:21318952

 

huE80E3D

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr17:21259545

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr17:21259545

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr17:21259545

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr17:21259545

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr17:21259545

 

GS18501 - var-GS18501-1100-36-ASM
het G @ chr17:21259545

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr17:21259545

 

GS18505 - var-GS18505-1100-36-ASM
het TG @ chr17:21259544

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr17:21259545

 

GS18555 - var-GS18555-1100-36-ASM
het G @ chr17:21259545

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr17:21259545

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr17:21259545

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr17:21259545

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr17:21259545

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr17:21259545

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr17:21259545

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr17:21259545

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr17:21259545

 

GS19701 - var-GS19701-1100-36-ASM
het G @ chr17:21259545

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr17:21259545

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr17:21259545

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr17:21259545

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr17:21259545

 

Other external references
 

    dbSNP
  • rs8076599
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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