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:

EPHX2 R287Q

(EPHX2 Arg287Gln)

You are viewing the latest version of this page, saved on November 29, 2012 at 6:52am 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

A @ chr8:27373865: 10.4% (1115/10758) in EVS
A @ chr8:27429781: 7.8% (10/128) in GET-Evidence
Frequency shown in summary reports: 10.4% (1115/10758)

Publications

Genomes

Added in this revision:

Other external references

dbSNP

rs751141
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

OMIM

Hypercholesterolemia, familial, due to ldlr defect, modifier of
www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=132811

PolyPhen-2

Score: 1.0 (probably damaging)

Other in silico analyses

NBLOSUM100 score = 0
GET-Evidence autoscore = 3

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_A04 from PGP sample 08188426 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_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_A04 from PGP sample 13272228 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_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
Mar 5 2012 Genome Importing Robot added hu232307 build 36 substitution variants view
Jun 22 2011 Genome Importing Robot removed J. Craig Venter view
Jun 22 2011 Genome Importing Robot removed [NA19240] view
Jun 22 2011 Genome Importing Robot removed !Gubi view
Jun 22 2011 Genome Importing Robot removed [snp-2] view
Jun 22 2011 Genome Importing Robot added PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) view
Jun 22 2011 Genome Importing Robot removed Seong-Jin Kim view
Mar 29 2011 Genome Importing Robot added var-GS19704-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19240-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19238-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19017-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18942-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18526-1100-36-ASM view
Feb 27 2010 Genome Importing Robot added !Gubi view
Jan 12 2010 Abraham Rosenbaum edited variant summary view
Jan 5 2010 OMIM Importing Robot edited variant summary view
Dec 27 2009 Genome Importing Robot added J. Craig Venter view
Dec 27 2009 Genome Importing Robot added [NA19240] view
Dec 27 2009 Genome Importing Robot added [snp-2] view
Dec 27 2009 Genome Importing Robot added CGI sample GS00253-DNA_B02_200_37 view
Dec 27 2009 Genome Importing Robot added Seong-Jin Kim view
Dec 27 2009 Genome Importing Robot added variant view

EPHX2 R287Q - GET-Evidence