TK2 K30R - 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:

TK2 K30R

(TK2 Lys30Arg)


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

  • C @ chr16:66584002: 23.7% (2509/10588) in EVS
  • C @ chr16:65141502: 27.0% (33/122) in GET-Evidence
  • Frequency shown in summary reports: 23.7% (2509/10588)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr16:66584002

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom C @ chr16:66584002

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr16:66584002

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr16:66584002

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr16:66584002

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het C @ chr16:66584002

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr16:66584002

 

 

hu728FFF - hu728FFF build 36 substitution variants
hom C @ chr16:65141503

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr16:66584002

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het C @ chr16:66584002

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr16:66584002

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr16:66584002

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr16:66584002

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr16:65141503

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr16:65141503

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr16:65141503

 

GS18505 - var-GS18505-1100-36-ASM
hom C @ chr16:65141503

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr16:65141503

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr16:65141503

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr16:65141503

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr16:65141503

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr16:65141503

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr16:65141503

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr16:65141503

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr16:65141503

 

GS19025 - var-GS19025-1100-36-ASM
hom C @ chr16:65141503

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr16:65141503

 

GS19129 - var-GS19129-1100-36-ASM
hom C @ chr16:65141503

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr16:65141503

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr16:65141503

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chr16:65141503

 

GS19735 - var-GS19735-1100-36-ASM
hom C @ chr16:65141503

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr16:65141503

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr16:65141503

 

Other external references
 

    dbSNP
  • rs3743716
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the TK2 gene
    Mitochondrial DNA Depletion Syndrome, Myopathic Form
    TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TK2

Other in silico analyses
 

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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