DLL3 L142Q - 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:

DLL3 L142Q

(DLL3 Leu142Gln)


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 @ chr19:39993470: 5.4% (361/6696) in EVS
  • A @ chr19:44685309: 2.0% (1/50) in GET-Evidence
  • Frequency shown in summary reports: 5.4% (361/6696)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr19:39993470

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom A @ chr19:39993470

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr19:39993470

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr19:39993470

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom A @ chr19:39993470

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr19:44685310

 

Other external references
 

    dbSNP
  • rs55741253
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the DLL3 gene
    Spondylocostal Dysostosis
    Spondylocostal Dysostosis, Autosomal Recessive
    DLL3-Related Spondylocostal Dysostosis, Autosomal Recessive
    Syndactyly, Type IV
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DLL3
    PolyPhen-2
  • Score: 0.707 (possibly damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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