SKIV2L V917M - 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:

SKIV2L V917M

(SKIV2L Val917Met)


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 @ chr6:31935750: 2.2% (168/7518) in EVS
  • A @ chr6:32043728: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 2.2% (168/7518)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr6:31935750

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr6:31935750

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr6:31935750

 

 

Other external references
 

    dbSNP
  • rs106287
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (8 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
  • nsSNP-phase1-to-3-support.tab
    18 phase1and2 g173761 rs7236891 8535785 1 A/G no ENSG00000182579 Q5T931. ... 18 phase1and2 g173763 rs1965665 8774612 1 A/G no ENSG00000168502 KIAA0802. ...
    www-gene.cimr.cam.ac.uk/todd/public_data/...
  • Helicase SKI2W - Homo sapiens (Human)
    ... OS=Homo sapiens GN=SKIV2L PE=1 SV=2 MMETERLVLPPPDPLDLPLRAVELGCTGHWELLNLPGAPESSLPHGLPPCAPDLQQEAEQ ... SKIV2L. Synonyms: DDX13, SKI2W, SKIV2, W. Organism. Homo sapiens (Human) ...
    www.uniprot.org/uniprot/Q15477
  • [Frontiers in Bioscience 6, d927-935, August 1, 2001] 927
    FEATURES OF THE TWO GENE PAIRS RD-SKI2W AND DOM3Z-RP1 LOCATED BETWEEN COMPLEMENT ... (SKIV2L)-DOM3Z-RP1(D6S60E), are present between. complement component ...
    www.bioscience.org/2001/v6/d/yang/yang.pdf
  • 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 = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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