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

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Curation:

Currentness:

(See the latest version)

SYNE2 N3982H

(SYNE2 Asn3982His)

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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 @ chr14:64557734: 8.9% (958/10758) in EVS
C @ chr14:63627486: 14.8% (19/128) in GET-Evidence
Frequency shown in summary reports: 8.9% (958/10758)

Publications

Genomes

Added in this revision:

Other external references

dbSNP

rs10137972
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

PolyPhen-2

Score: 0.846 (possibly damaging)

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 GS01175-DNA_D03 from PGP sample 27486199 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F06 from PGP sample 64191565 view
Jun 23 2011 Genome Importing Robot removed [NA18555] view
Jun 23 2011 Genome Importing Robot removed [NA18507] view
Jun 23 2011 Genome Importing Robot removed [NA07022] view
Jun 22 2011 Genome Importing Robot removed G/aq'o view
Jun 22 2011 Genome Importing Robot removed !Ai view
Mar 29 2011 Genome Importing Robot added var-GS19704-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19649-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19648-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19239-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19026-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19025-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18555-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18508-1100-36-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
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_G01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_F01_200_37 view
Feb 27 2010 Genome Importing Robot added G/aq'o view
Feb 27 2010 Genome Importing Robot added !Ai view
Dec 27 2009 Genome Importing Robot added [NA07022] view
Dec 27 2009 Genome Importing Robot added [NA18507] view
Dec 27 2009 Genome Importing Robot added [NA18555] view
Dec 27 2009 Genome Importing Robot added variant view

SYNE2 N3982H - GET-Evidence