ROS1 D1776H - GET-Evidence

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

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Curation:
Currentness:

ROS1 D1776H

(ROS1 Asp1776His)


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

  • G @ chr6:117650532: 1.8% (198/10754) in EVS
  • G @ chr6:117757224: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 1.8% (198/10754)

Publications
 

Genomes
 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr6:117650532

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr6:117757225

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr6:117757225

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr6:117757225

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr6:117757225

 

Other external references
 

    dbSNP
  • rs12664076
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.995 (probably damaging)
    Web search results (7 hits -- see all)
  • ROS1 Gene - GeneCards | ROS Protein | ROS Antibody
    EntrezGene summary for ROS1: This proto-oncogene, highly-expressed in a variety of tumor ... ROS1 Gene in genomic location: bands according to Ensembl, locations ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=ROS1
  • Proto-oncogene tyrosine-protein kinase ROS precursor - Homo ...
    A chromosomal aberration involving ROS1 is found in glioblastoma multiform (GBM). An ... results in expression of a GOPC-ROS1 chimeric protein which has a constitutive receptor ...
    www.uniprot.org/uniprot/P08922
  • Entry View
    A chromosomal aberration involving ROS1 is found in glioblastoma multiform (GBM). An ... results in expression of a GOPC-ROS1 chimeric protein which has a constitutive receptor ...
    srs.dna.affrc.go.jp/srs8/srs?-id+1RgFAM1b2oXT0uW+...
  • UniProt: P08922
    ... DISEASE: A chromosomal aberration involving ROS1 is found in CC glioblastoma ... SITE 1880 1881 Breakpoint for translocation to form FT GOPC-ROS1 fusion protein. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:P08922

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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