DSC1 M659T - 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:

DSC1 M659T

(DSC1 Met659Thr)


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 @ chr18:28713994: 3.6% (390/10758) in EVS
  • G @ chr18:26967991: 2.4% (3/126) in GET-Evidence
  • Frequency shown in summary reports: 3.6% (390/10758)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr18:28713994

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chr18:28713994

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr18:28713994

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr18:28713994

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr18:28713994

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr18:28713994

 

GS06994 - var-GS06994-1100-36-ASM
hom G @ chr18:26967992

 

Other external references
 

    dbSNP
  • rs28620831
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (2 hits -- see all)
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: DSC1 ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
    www.mutdb.org/cgi-bin/mutdb.pl?id=DSC1&geneid=1823
  • 1823
    The Arabidopsis Thaliana Transcription Factors Database,Genomic Transcription Factors Information about Arabidopsis thaliana
    okcam.cbi.pku.edu.cn/entry-info.php?id=1823

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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