KCNJ12 M71I - 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 M71I

(KCNJ12 Met71Ile)


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
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr17:21318867

 

hu34D5B9 - hu34D5B9 exome
het A @ chr17:21318867

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr17:21318867

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr17:21318867

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr17:21318867

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr17:21318867

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr17:21318867

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr17:21318867

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr17:21318867

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr17:21318867

 

NA12878

 

Other external references
 

    dbSNP
  • rs73979893
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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