CABIN1 D225N - 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!



(CABIN1 Asp225Asn)

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 @ chr22:24447303: 4.6% (497/10758) in EVS
  • A @ chr22:22777302: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 4.6% (497/10758)



huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr22:24447303


GS19017 - var-GS19017-1100-36-ASM
het A @ chr22:22777303


GS19020 - var-GS19020-1100-36-ASM
het A @ chr22:22777303


GS19129 - var-GS19129-1100-36-ASM
het A @ chr22:22777303


GS19670 - var-GS19670-1100-36-ASM
het A @ chr22:22777303


Other external references

  • rs17004823
    Web search results (7 hits -- see all)
  • CABIN1 Gene - GeneCards | CABIN Protein | CABIN Antibody
    EntrezGene summary for CABIN1: Calcineurin plays an important role in ... CABIN1 Gene in genomic location: bands according to Ensembl, locations according to (and ...
  • Calcineurin-binding protein cabin-1 - Homo sapiens (Human)
    CABIN1. Synonyms: KIAA0330. Organism. Homo sapiens (Human) [Complete ... of a complex that includes at least ASF1A, CABIN1, HIRA, histone H3.3 and UBN1. ...
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... rs17004823*CABIN1 NM_012295 NP_036427*D225N*calcineurin binding protein 1 ...
  • Mooney Lab - MutDB
    CABIN1. Number of Transcript Variants. 0. Visualize Pathways. Using web services (slow) ... DBSNP:rs17004823. 224. D N. NCBI. In dbsnp. None. Not scored. DBSNP:rs9624393. 516. S R. NCBI. In ...
  • UniProt: Q9Y6J0
    ... recruitment of transcriptional co-repressor Cabin1 RT by myocyte enhancer factor ... a complex that includes at least ASF1A, CC CABIN1, HIRA, histone H3.3 and UBN1. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

Log in