STK36 K295R - 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:

STK36 K295R

(STK36 Lys295Arg)


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

  • G @ chr2:219544388: 15.6% (1677/10758) in EVS
  • G @ chr2:219252631: 18.0% (23/128) in GET-Evidence
  • Frequency shown in summary reports: 15.6% (1677/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr2:219544388

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr2:219544388

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het G @ chr2:219544388

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom G @ chr2:219544388

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr2:219544388

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr2:219252632

 

GS18501 - var-GS18501-1100-36-ASM
hom G @ chr2:219252632

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr2:219252632

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr2:219252632

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr2:219252632

 

GS18555 - var-GS18555-1100-36-ASM
het G @ chr2:219252632

 

GS19017 - var-GS19017-1100-36-ASM
het G @ chr2:219252632

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr2:219252632

 

GS19025 - var-GS19025-1100-36-ASM
het G @ chr2:219252632

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr2:219252632

 

GS19129 - var-GS19129-1100-36-ASM
het G @ chr2:219252632

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr2:219252632

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr2:219252632

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr2:219252632

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr2:219252632

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr2:219252632

 

Other external references
 

    dbSNP
  • rs1863703
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.019 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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