BZRAP1 Q817R - 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:

BZRAP1 Q817R

(BZRAP1 Gln817Arg)


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 @ chr17:56389732: 14.5% (1561/10754) in EVS
  • C @ chr17:53744730: 14.1% (18/128) in GET-Evidence
  • Frequency shown in summary reports: 14.5% (1561/10754)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom C @ chr17:56389732

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr17:56389732

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het C @ chr17:56389732

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr17:56389732

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr17:56389732

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom C @ chr17:56389732

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr17:56389732

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr17:56389732

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr17:56389732

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr17:56389732

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr17:56389732

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr17:53744731

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr17:53744731

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr17:53744731

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr17:53744731

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr17:53744731

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr17:53744731

 

GS18942 - var-GS18942-1100-36-ASM
hom C @ chr17:53744731

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr17:53744731

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr17:53744731

 

Other external references
 

    dbSNP
  • rs9913145
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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