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:

(See the latest version)

CDC42BPG Q1135R

(CDC42BPG Gln1135Arg)

You are viewing an old version of this page that was saved on November 29, 2012 at 2:53am by Genome Importing Robot.

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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

C @ chr11:64597506: 50.4% (5420/10756) in EVS
C @ chr11:64354081: 30.0% (21/70) in GET-Evidence
Frequency shown in summary reports: 50.4% (5420/10756)

Publications

Genomes

Added in this revision:

Other external references

dbSNP

rs3741395
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

PolyPhen-2

Score: 0.001 (benign)

Other in silico analyses

NBLOSUM100 score = 0
GET-Evidence autoscore = 0

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_H05 from PGP sample 10971581 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_C05 from PGP sample 42408046 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_F02 from PGP sample 40767107 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_D02 from PGP sample 27316983 view
Nov 29 2012 Genome Importing Robot added CGI sample GS00253-DNA_G01_200_37 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_G03 from PGP sample 92527586 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_F02 from PGP sample 95788191 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_B05 from PGP sample 83494370 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 GS01173-DNA_G02 from PGP sample 67180598 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F06 from PGP sample 64191565 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F02 from PGP sample 70008981 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_C02 from PGP sample 10366372 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_B07 from PGP sample 61499538 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_B02 from PGP sample 94378523 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_A07 from PGP sample 96240009 view
Mar 5 2012 Genome Importing Robot added CGI sample GS000006909 view
Mar 5 2012 Genome Importing Robot added CGI sample GS000005532 view
Mar 5 2012 Genome Importing Robot added hu232307 build 36 substitution variants view
Jun 23 2011 Genome Importing Robot removed [NA18517] view
Jun 23 2011 Genome Importing Robot removed [NA12878] view
Jun 23 2011 Genome Importing Robot removed [NA12156] view
Jun 23 2011 Genome Importing Robot removed James D. Watson view
Jun 23 2011 Genome Importing Robot removed [NA07022] view
Jun 22 2011 Genome Importing Robot removed Stephen Quake view
Jun 22 2011 Genome Importing Robot removed J. Craig Venter view
Mar 29 2011 Genome Importing Robot added var-GS20502-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19704-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19239-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19017-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18517-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS07357-1100-36-ASM view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Sr. view
Dec 6 2010 Genome Importing Robot added hu728FFF build 36 substitution variants view
Dec 6 2010 Genome Importing Robot removed CGI sample GS00253-DNA_G01_200_37 view
Dec 6 2010 Genome Importing Robot removed CGI sample GS00253-DNA_A01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_A02_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_D01_200_37 view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_G01_200_37 view
Feb 26 2010 Genome Importing Robot added [NA12156] view
Feb 17 2010 Genome Importing Robot added Henry Louis Gates Sr. view
Dec 27 2009 Genome Importing Robot added CGI sample GS00253-DNA_A01_200_37 view
Dec 27 2009 Genome Importing Robot added [NA07022] view
Dec 27 2009 Genome Importing Robot added Stephen Quake view
Dec 27 2009 Genome Importing Robot added J. Craig Venter view
Dec 27 2009 Genome Importing Robot added [NA18517] view
Dec 27 2009 Genome Importing Robot added [NA12878] view
Dec 27 2009 Genome Importing Robot added James D. Watson view
Dec 27 2009 Genome Importing Robot added variant view

CDC42BPG Q1135R - GET-Evidence