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.

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Curation:
Currentness:

CABIN1 D225N

(CABIN1 Asp225Asn)


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 @ 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)

Publications
 

Genomes
 

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
 

    dbSNP
  • rs17004823
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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 ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=CABIN1
  • 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. ...
    www.uniprot.org/uniprot/Q9Y6J0
  • 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 ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • 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 ...
    mutdb.org/cgi-bin/mutdb.pl?id=CABIN1&geneid=23523
  • 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. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q9Y6J0

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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