BAG3 C151R - GET-Evidence

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:

BAG3 C151R

(BAG3 Cys151Arg)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

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
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr10:121429633

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr10:121429633

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr10:121429633

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr10:121429633

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr10:121429633

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr10:121429633

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr10:121429633

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr10:121429633

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr10:121429633

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr10:121429633

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr10:121429633

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr10:121429633

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr10:121429633

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr10:121419623

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr10:121419623

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr10:121419623

 

Other external references
 

    dbSNP
  • rs2234962
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in