Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:

Currentness:

(See the latest version)

NUDT19 R142Q

(NUDT19 Arg142Gln)

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Variant evidence
Computational		-

Functional		-

Case/Control		-

Familial		-


Clinical importance
Severity		-

Treatability		-

Penetrance		-

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

unknown

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

Deleted in this revision:

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

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_C07 from PGP sample 74521372 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_D05 from PGP sample 1205491 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_H01 from PGP sample 94797469 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_G03 from PGP sample 92527586 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_D01 from PGP sample 31286272 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B04 from PGP sample 88590671 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_A04 from PGP sample 13272228 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_D06 from PGP sample 69488604 view
Nov 29 2012 Genome Importing Robot added hu34D5B9 exome view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_A07 from PGP sample 96240009 view
Jun 23 2011 Genome Importing Robot removed [NA07022] view
Jun 22 2011 Genome Importing Robot removed J. Craig Venter view
Jun 22 2011 Genome Importing Robot removed [snp-3] view
Mar 29 2011 Genome Importing Robot added var-GS20509-1100-36-ASM view
Dec 6 2010 Genome Importing Robot removed CGI sample GS00253-DNA_B02_200_37 view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_B02_200_37 view
Dec 27 2009 Genome Importing Robot added [NA07022] view
Dec 27 2009 Genome Importing Robot added J. Craig Venter view
Dec 27 2009 Genome Importing Robot added [snp-3] view
Dec 27 2009 Genome Importing Robot added variant view

NUDT19 R142Q - GET-Evidence