KCNJ12 R40H - 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.

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Curation:
Currentness:

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KCNJ12 R40H

(KCNJ12 Arg40His)


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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

  • A @ chr17:21318773: 24.6% (2649/10758) in EVS
  • A @ chr17:21259365: 17.4% (16/92) in GET-Evidence
  • Frequency shown in summary reports: 24.6% (2649/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr17:21318773

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr17:21318773

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr17:21318773

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr17:21318773

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr17:21318773

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr17:21318773

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr17:21318773

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr17:21318773

 

Added in this revision:

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr17:21318773

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr17:21318773

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr17:21318773

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr17:21259366

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr17:21259366

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr17:21259366

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr17:21259366

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr17:21259366

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr17:21259366

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr17:21259366

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr17:21259366

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr17:21259366

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr17:21259366

 

NA12878

 

Other external references
 

    dbSNP
  • rs3752034
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.034 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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