SKIV2L R324W - GET-Evidence

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

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Curation:
Currentness:

SKIV2L R324W

(SKIV2L Arg324Trp)


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

  • T @ chr6:31929737: 1.4% (109/7524) in EVS
  • T @ chr6:32037715: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 1.4% (109/7524)

Publications
 

Genomes
 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr6:32037716

 

Other external references
 

    dbSNP
  • rs36038685
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (6 hits -- see all)
  • SKIV2L Gene - GeneCards | SKIV2 Protein | SKIV2 Antibody
    Gene Wiki entry for SKIV2L. Genomic Location. for SKIV2L gene (According to GeneLoc and/or ... SKIV2L Gene in genomic location: bands according to Ensembl, ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=SKIV2L
  • Helicase SKI2W - Homo sapiens (Human)
    SKIV2L. Synonyms: DDX13, SKI2W, SKIV2, W. Organism. Homo sapiens (Human) ... R W: dbSNP rs36038685. VAR_055888. Natural variant. 765. 1. M I in a ...
    www.uniprot.org/uniprot/Q15477
  • UniProt: Q15477
    DT 15-JUL-1998, sequence version 2. DT 20-APR-2010, entry version 97. DE RecName: ... GC06Pn31916; -. DR GeneCards; GC06Po31918; -. DR HGNC; HGNC:10898; SKIV2L. ...
    www.kegg.com/dbget-bin/www_bget?uniprot:Q15477

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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