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

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Curation:

Currentness:

(See the latest version)

BAG3 C151R

(BAG3 Cys151Arg)

You are viewing an old version of this page that was saved on November 29, 2012 at 4:43am 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 @ chr10:121429633: 14.9% (1603/10752) in EVS
C @ chr10:121419622: 10.9% (14/128) in GET-Evidence
Frequency shown in summary reports: 14.9% (1603/10752)

Publications

Genomes

Added in this revision:

Other external references

dbSNP

rs2234962
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the BAG3 gene
Myofibrillar Myopathy
BAG3-Related Myofibrillar Myopathy
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BAG3

Web search results (0 hits -- see all)

Other in silico analyses

NBLOSUM100 score = 8
GET-Evidence autoscore = 1

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 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_B04 from PGP sample 88590671 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_F06 from PGP sample 64191565 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
Mar 5 2012 Genome Importing Robot added CGI sample GS000006909 view
Mar 5 2012 Genome Importing Robot added hu232307 build 36 substitution variants view
Jun 23 2011 Genome Importing Robot removed [NA12878] view
Jun 23 2011 Genome Importing Robot removed James D. Watson view
Jun 22 2011 Genome Importing Robot removed Stephen Quake view
Jun 22 2011 Genome Importing Robot added PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) view
Mar 29 2011 Genome Importing Robot added var-GS20502-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19670-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS06985-1100-36-ASM 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_H01_200_37 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_B01_200_37 view
Dec 27 2009 Genome Importing Robot added Stephen Quake 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

BAG3 C151R - GET-Evidence