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.

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(BAZ2B Pro530Leu)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



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

  • rs3732287
    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) ...
  • 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 ...
  • 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) ...
  • 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) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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