CSRP1 K108I - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

CSRP1 K108I

(CSRP1 Lys108Ile)


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 @ chr1:201458071: 0.1% (10/10758) in EVS
  • Frequency shown in summary reports: 0.1% (10/10758)

Publications
 

Genomes
 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr1:201458071

 

Other external references
 

    dbSNP
  • rs3738283
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.864 (probably damaging)
    Web search results (5 hits -- see all)
  • CSRP1 Gene - GeneCards | CSRP1 Protein | CSRP1 Antibody
    EntrezGene summary for CSRP1: This gene encodes a member of the cysteine-rich protein ... CSRP1 Gene in genomic location: bands according to Ensembl, locations ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=CSRP1
  • Supplementary File 3
    5436 genes (unique) and 6516 proteins (unique) have at least one nsSNP that is both ... CSRP1. NM_004078. rs3738283. Lys. 108. Ile. probably damaging. DELETERIOUS ...
    polydoms.cchmc.org/polydoms/supplementary/...
  • 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
  • Cysteine and glycine-rich protein 1 - Homo sapiens (Human)
    CSRP1. Synonyms: CSRP, CYRP. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... K I: dbSNP rs3738283. VAR_050144. Hide | Top. SequencesHide. Sequence ...
    www.uniprot.org/uniprot/P21291
  • UniProt: P21291
    DT 23-JAN-2007, sequence version 3. DT 23-MAR-2010, entry version 97. ... GeneCards; GC01M199719; -. DR H-InvDB; HIX0001460; -. DR HGNC; HGNC:2469; CSRP1. ...
    www.genome.jp/dbget-bin/www_bget?uniprot+P21291

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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