KCNJ10 R18Q - 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:

KCNJ10 R18Q

(KCNJ10 Arg18Gln)


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

  • T @ chr1:160012270: 1.2% (132/10758) in EVS
  • T @ chr1:158278893: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 1.2% (132/10758)

Publications
 

Genomes
 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr1:160012270

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr1:160012270

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr1:158278894

 

Other external references
 

    dbSNP
  • rs115466046
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.454 (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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