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

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Curation:

Currentness:

(See the latest version)

PLA2G4D R807Q

(PLA2G4D Arg807Gln)

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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

T @ chr15:42360950: 8.9% (960/10758) in EVS
T @ chr15:40148241: 6.2% (8/128) in GET-Evidence
Frequency shown in summary reports: 8.9% (960/10758)

Publications

Genomes

Added in this revision:

Other external references

dbSNP

rs750051
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

PolyPhen-2

Score: 0.976 (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 GS01669-DNA_D02 from PGP sample 27316983 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 GS01173-DNA_F02 from PGP sample 70008981 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
Jun 23 2011 Genome Importing Robot removed [NA07022] view
Jun 22 2011 Genome Importing Robot removed Stephen Quake view
Mar 29 2011 Genome Importing Robot added var-GS10851-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS07357-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18504-1100-36-ASM view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Jr. view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Sr. view
Dec 6 2010 Genome Importing Robot added hu3215A7 build 36 substitution variants 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_G01_200_37 view
May 12 2010 Genome Importing Robot added Henry Louis Gates Jr. view
May 8 2010 Genome Importing Robot added CGI sample GS00253-DNA_A02_200_37 view
Feb 26 2010 Genome Importing Robot added CGI sample GS00253-DNA_D01_200_37 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 Stephen Quake view
Dec 27 2009 Genome Importing Robot added variant view

PLA2G4D R807Q - GET-Evidence