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)

F5 K858R

(F5 Lys858Arg)

You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

View the previous version
View the next version
View the latest version

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 @ chr1:169511755: 24.4% (2624/10758) in EVS
C @ chr1:167778378: 30.5% (39/128) in GET-Evidence
Frequency shown in summary reports: 24.4% (2624/10758)

Publications

Genomes

Added in this revision:

Other external references

dbSNP

rs4524
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the F5 gene
Budd-Chiari Syndrome
Factor V Cambridge Thrombophilia
Factor V Deficiency
Factor V Leiden Thrombophilia
Factor V R2 Mutation Thrombophilia
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/F5

Web search results (5 hits -- see all)

AceView: Gene:F5, a comprehensive annotation of human, mouse ...
AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=F5
telnet.23_sithqx
<!DOCTYPE xhtml PUBLIC "-//W3C//DTD XHTML 1.0 Transitional//EN" "http: ... 6!N33)N*!V#Q64m`ET#E4A,hX%F5+N58VUfDGGkp-QNY"'-EFB(8H1'()Z!!"`NK ...
iubio.bio.indiana.edu/.../util/mac/telnet/telnet.23_sithqx
<!DOCTYPE xhtml PUBLIC "-/W3C/DTD XHTML 1.0 Transitional/EN ...
... h9%9B9%e69d3"!+$K,L@Ji6"b!*!'8Cd!N!B TQ`!!D6m!N!ENL`dD#+Pc"J560 ... 5 jbL'6!N33)N*!V#Q64m`ET#E4A,hX%F5+N58VUfDGGkp-QNY"'-EFB(8H1'()Z! ...
iubio.bio.indiana.edu/soft/util/mac/telnet/...
Thrombosis in Postmenopausal Women Association of Genetic ...
Factor V (F5) Lower half. 71.3.‡ 5. 7. 91.7 .24 .39. Upper half. 71.3.‡ 9. 10 ... K858R. 27.0. 0.74 (0.60-0.90) .003 .14. 8.7 0.75 (0.58-0.97) 0.52 (0.30 ...
jama.ama-assn.org/cgi/reprint/297/5/489.pdf
Table 1 Text
... 213 rs4524 F5 2153 1 166243413 NM_000130 NP_000121 A/G K858R minus 3195262 738 ... 216 rs4524 F5 2153 1 166243413 NM_000130 NP_000121 A/G K858R minus 12674294 1303 ...
icr.ac.uk/research/research_sections/.../2841.txt

Other in silico analyses

NBLOSUM100 score = –3
GET-Evidence autoscore = 3

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_B05 from PGP sample 86486261 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_B03 from PGP sample 14427241 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 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_F02 from PGP sample 95788191 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_D03 from PGP sample 27486199 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 GS01175-DNA_B01 from PGP sample 86206034 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 hu34D5B9 exome view
Mar 5 2012 Genome Importing Robot added CGI sample GS000006909 view
Aug 3 2011 Han Luu edited variant summary view
Jun 23 2011 Genome Importing Robot removed [NA19129] view
Jun 23 2011 Genome Importing Robot removed [NA18956] 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 [NA07022] view
Jun 22 2011 Genome Importing Robot removed D#kgao view
Jun 22 2011 Genome Importing Robot removed Seong-Jin Kim view
Jun 14 2011 Han Luu edited variant summary view
Mar 29 2011 Genome Importing Robot added var-GS20502-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19834-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19735-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19704-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19700-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19670-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19669-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19649-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19129-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19026-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18956-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18947-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18940-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18537-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS10851-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18501-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS07357-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18502-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18505-1100-36-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
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_H01_200_37 view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_B01_200_37 view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_B02_200_37 view
Feb 27 2010 Genome Importing Robot added D#kgao 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 [NA07022] view
Dec 27 2009 Genome Importing Robot added [NA19129] view
Dec 27 2009 Genome Importing Robot added [NA18956] view
Dec 27 2009 Genome Importing Robot added [NA12878] view
Dec 27 2009 Genome Importing Robot added Seong-Jin Kim view
Dec 27 2009 Genome Importing Robot added variant view

F5 K858R - GET-Evidence