DMP1 S53C - 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:

DMP1 S53C

(DMP1 Ser53Cys)


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 @ chr4:88583135: 27.7% (2982/10758) in EVS
  • Frequency shown in summary reports: 27.7% (2982/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr4:88583135

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr4:88583135

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr4:88583135

 

 

 

 

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr4:88583135

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr4:88583135

 

 

 

NA12878

 

Other external references
 

    dbSNP
  • rs10019009
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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