NUDT19 R142Q - 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:

NUDT19 R142Q

(NUDT19 Arg142Gln)


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 @ chr19:33183291: 17.6% (1784/10156) in EVS
  • A @ chr19:37875130: 1.9% (1/54) in GET-Evidence
  • Frequency shown in summary reports: 17.6% (1784/10156)

Publications
 

Genomes
 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr19:33183291

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr19:33183291

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr19:33183291

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr19:33183291

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom A @ chr19:33183291

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr19:33183291

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr19:33183291

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr19:33183291

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr19:33183291

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr19:37875131

 

Other external references
 

    dbSNP
  • rs8108621
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.999 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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