BZRAP1 A586T - 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.

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Curation:
Currentness:

BZRAP1 A586T

(BZRAP1 Ala586Thr)


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

  • T @ chr17:56395757: 4.3% (461/10756) in EVS
  • T @ chr17:53750755: 10.2% (13/128) in GET-Evidence
  • Frequency shown in summary reports: 4.3% (461/10756)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom T @ chr17:56395757

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr17:56395757

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr17:56395757

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr17:56395757

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr17:56395757

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr17:56395757

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr17:53750756

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr17:53750756

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr17:53750756

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr17:53750756

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr17:53750756

 

GS18947 - var-GS18947-1100-36-ASM
hom T @ chr17:53750756

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr17:53750756

 

Other external references
 

    dbSNP
  • rs2072147
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (5 hits -- see all)
  • BZRAP1 Gene - GeneCards | RIMB1 Protein | RIMB1 Antibody
    BZRAP1 Gene in genomic location: bands according to Ensembl, locations according to (and ... BZRAP1 for ontologies About GeneDecksing. Antibodies for BZRAP1: ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=BZRAP1
  • Peripheral-type benzodiazepine receptor-associated protein 1 ...
    Enter your search text here. Enter your search query here. Reset button. Fields " Search ... BZRAP1. Synonyms: KIAA0612, RBP1, RIMBP1. Organism. Homo sapiens (Human) ...
    www.uniprot.org/uniprot/O95153
  • nsSNP-phase1-to-3-support.tab
    18 phase1and2 g173761 rs7236891 8535785 1 A/G no ENSG00000182579 Q5T931. ... 18 phase1and2 g173763 rs1965665 8774612 1 A/G no ENSG00000168502 KIAA0802. ...
    www-gene.cimr.cam.ac.uk/todd/public_data/...
  • UniProt: RIMB1_HUMAN
    AC O95153; O75111; Q8N5W3; DT 16-JAN-2004, integrated into UniProtKB/Swiss-Prot. ... GC17M053733; -. DR H-InvDB; HIX0014027; -. DR HGNC; HGNC:16831; BZRAP1. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:RIMB1_HUMAN

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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