ASB10 R438C - 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:

ASB10 R438C

(ASB10 Arg438Cys)


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 @ chr7:150873246: 0.9% (100/10698) in EVS
  • Frequency shown in summary reports: 0.9% (100/10698)

Publications
 

Genomes
 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr7:150873246

 

Other external references
 

    dbSNP
  • rs3800791
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (7 hits -- see all)
  • ASB10 Gene - GeneCards | ASB10 Protein | ASB10 Antibody
    EntrezGene summary for ASB10: The protein encoded by this gene is a member of the ankyrin ... ASB10 Gene in genomic location: bands according to Ensembl, locations ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=ASB10
  • 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
  • nsSNP-phase1-to-3-support.tab
    18 phase1 g173767 rs8099409 19207718 1 G/A no ENSG00000134490 Q6ZTS7 . 18 phase1and2 ... 7 phase1 g174937 rs3800791 150310894 1 G/A no ENSG00000146926 ASB10. ...
    www-gene.cimr.cam.ac.uk/todd/public_data/...
  • Ankyrin repeat and SOCS box protein 10 - Homo sapiens (Human)
    ASB10. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... 1. R C: dbSNP rs3800791. VAR_022090. Experimental info. Sequence conflict. 421. 1. Q R in ...
    www.uniprot.org/uniprot/Q8WXI3
  • UniProt: Q8WXI3
    AC Q8WXI3; A0AVH0; DT 10-MAY-2002, integrated into UniProtKB/Swiss-Prot. ... DR CTD; 136371; -. DR GeneCards; GC07M150503; -. DR HGNC; HGNC:17185; ASB10. ...
    www.genome.jp/dbget-bin/www_bget?uniprot+Q8WXI3

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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