DMPK L423V - 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:

(See the latest version)

DMPK L423V

(DMPK Leu423Val)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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

  • C @ chr19:46275976: 9.5% (1023/10756) in EVS
  • C @ chr19:50967815: 9.5% (12/126) in GET-Evidence
  • Frequency shown in summary reports: 9.5% (1023/10756)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr19:46275976

 

 

 

Added in this revision:

GS07357 - var-GS07357-1100-36-ASM
het C @ chr19:50967816

 

NA19240

 

snp-5

 

snp-6

 

Other external references
 

    dbSNP
  • rs527221
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (3 hits -- see all)
  • Clone Detail
    DMPK. dystrophia myotonica-protein kinase. NM_004409. Insert Sequence: ... Recombinational donor/master vector with 6xHN tag ORF, T7 and M13 primer sites; ...
    plasmid.med.harvard.edu/PLASMID/GetCloneDetail.do?...
  • Clone Detail
    DMPK. dystrophia myotonica-protein kinase. NM_004409. Insert Sequence: ... Retroviral expression vector with CMV promoter, MMV-type 5p and 3p LTRs; amp ...
    plasmid.med.harvard.edu/PLASMID/GetCloneDetail.do?...

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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