BZRAP1 A1140P - 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 A1140P

(BZRAP1 Ala1140Pro)


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

  • G @ chr17:56388238: 26.6% (2822/10610) in EVS
  • G @ chr17:53743236: 36.9% (45/122) in GET-Evidence
  • Frequency shown in summary reports: 26.6% (2822/10610)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr17:56388238

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom G @ chr17:56388238

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr17:56388238

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chr17:56388238

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr17:56388238

 

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het G @ chr17:56388238

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr17:56388238

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr17:56388238

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr17:56388238

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het G @ chr17:56388238

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr17:56388238

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr17:56388238

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr17:56388238

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr17:56388238

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr17:56388238

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom G @ chr17:56388238

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom G @ chr17:56388238

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom G @ chr17:56388238

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr17:56388238

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr17:53743237

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr17:53743237

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr17:53743237

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr17:53743237

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr17:53743237

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr17:53743237

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr17:53743237

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr17:53743237

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr17:53743237

 

GS18942 - var-GS18942-1100-36-ASM
hom G @ chr17:53743237

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr17:53743237

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr17:53743237

 

GS19648 - var-GS19648-1100-36-ASM
hom G @ chr17:53743237

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr17:53743237

 

GS19703 - var-GS19703-1100-36-ASM
hom G @ chr17:53743237

 

GS19704 - var-GS19704-1100-36-ASM
hom G @ chr17:53743237

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr17:53743237

 

GS20509 - var-GS20509-1100-36-ASM
hom G @ chr17:53743237

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr17:53743237

 

Other external references
 

    dbSNP
  • rs2680704
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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