DLL3 F172C - 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 F172C

(DLL3 Phe172Cys)


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 @ chr19:39993560: 15.3% (548/3574) in EVS
  • Frequency shown in summary reports: 15.3% (548/3574)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
hom G @ chr19:39993560

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr19:39993560

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr19:39993560

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom G @ chr19:39993560

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr19:39993560

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr19:39993560

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het G @ chr19:39993560

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr19:39993560

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr19:39993560

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het G @ chr19:39993560

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr19:39993560

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr19:39993560

 

Other external references
 

    dbSNP
  • rs8107127
    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: 0.981 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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