BAZ2B P530L - 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:

BAZ2B P530L

(BAZ2B Pro530Leu)


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

  • A @ chr2:160289579: 1.1% (108/9668) in EVS
  • A @ chr2:159997824: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 1.1% (108/9668)

Publications
 

Genomes
 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr2:160289579

 

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr2:159997825

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr2:159997825

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr2:159997825

 

Other external references
 

    dbSNP
  • rs3732287
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (6 hits -- see all)
  • BAZ2B Gene - GeneCards | BAZ2B Protein | BAZ2B Antibody
    BAZ2B Gene in genomic location: bands according to Ensembl, locations according to (and ... Monoclonal and Polyclonal Antibodies from Abnova (BAZ2B) ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=BAZ2B
  • Bromodomain adjacent to zinc finger domain protein 2B - Homo ...
    BAZ2B. Synonyms: KIAA1476. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... P L: dbSNP rs3732287. VAR_055551. Natural variant. 702. 1. G V: dbSNP ...
    www.uniprot.org/uniprot/Q9UIF8
  • Mooney Lab - MutDB
    Gene ID: BAZ2B. Navigation: Non-Synonymous SNPs. Synonymous SNPs. Intronic SNPs. Untranslated ... BAZ2B. Number of Transcript Variants. 0. Visualize Pathways. Using web services (slow) ...
    mutdb.org/cgi-bin/mutdb.pl?id=BAZ2B&geneid=29994
  • UniProt: BAZ2B_HUMAN
    AC Q9UIF8; Q96EA1; Q96SQ8; Q9P252; Q9Y4N8; DT 30-AUG-2002, integrated into ... AltName: Full=hWALp4; GN Name=BAZ2B; Synonyms=KIAA1476; OS Homo sapiens (Human) ...
    www.genome.jp/dbget-bin/www_bget?uniprot:BAZ2B_HUMAN

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in