BZRAP1 G1830E - 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 G1830E

(BZRAP1 Gly1830Glu)


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 @ chr17:56382477: 2.8% (302/10758) in EVS
  • T @ chr17:53737475: 8.6% (11/128) in GET-Evidence
  • Frequency shown in summary reports: 2.8% (302/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom T @ chr17:56382477

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr17:56382477

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr17:56382477

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr17:56382477

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr17:56382477

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr17:53737476

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr17:53737476

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr17:53737476

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr17:53737476

 

Other external references
 

    dbSNP
  • rs2301868
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.204 (possibly damaging)
    Web search results (6 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
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k ... 0;\-"ú"#,##0*"ú"#,##0;[Red]\-"ú"#,##0*"ú"#,##0.00;\-"ú"#,##0.00**#*"ú"#,##0.00; ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Peripheral-type benzodiazepine receptor-associated protein 1 ...
    Enter your search text here. Enter your search query here. Reset button ... G E: dbSNP rs2301868. VAR_017451. Experimental info. Sequence conflict. 1525. 1. G R in ...
    www.uniprot.org/uniprot/O95153
  • Type III 95%
    ... (s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R 14 ... Polymorphism (dbSNP:rs3865205) 9920877 ST5 P78524 K316N 322 VAR_027101 STE20 (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_95.txt
  • 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 = 6
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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