UNC13D K867E - 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:

UNC13D K867E

(UNC13D Lys867Glu)


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 @ chr17:73827205: 49.6% (5332/10756) in EVS
  • C @ chr17:71338799: 51.7% (62/120) in GET-Evidence
  • Frequency shown in summary reports: 49.6% (5332/10756)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr17:73827205

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom C @ chr17:73827205

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr17:73827205

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr17:73827205

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr17:73827205

 

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr17:73827205

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr17:73827205

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het C @ chr17:73827205

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr17:73827205

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr17:73827205

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr17:73827205

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom C @ chr17:73827205

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr17:73827205

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom C @ chr17:73827205

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr17:73827205

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom C @ chr17:73827205

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr17:73827205

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom C @ chr17:73827205

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr17:73827205

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom C @ chr17:73827205

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr17:71338800

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr17:71338800

 

GS18501 - var-GS18501-1100-36-ASM
hom C @ chr17:71338800

 

GS18502 - var-GS18502-1100-36-ASM
hom C @ chr17:71338800

 

GS18504 - var-GS18504-1100-36-ASM
hom C @ chr17:71338800

 

GS18505 - var-GS18505-1100-36-ASM
hom C @ chr17:71338800

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr17:71338800

 

GS18517 - var-GS18517-1100-36-ASM
hom C @ chr17:71338800

 

GS18526 - var-GS18526-1100-36-ASM
hom C @ chr17:71338800

 

GS18537 - var-GS18537-1100-36-ASM
hom C @ chr17:71338800

 

GS18555 - var-GS18555-1100-36-ASM
hom C @ chr17:71338800

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr17:71338800

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr17:71338800

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr17:71338800

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr17:71338800

 

GS19017 - var-GS19017-1100-36-ASM
hom C @ chr17:71338800

 

GS19020 - var-GS19020-1100-36-ASM
hom C @ chr17:71338800

 

GS19025 - var-GS19025-1100-36-ASM
hom C @ chr17:71338800

 

GS19026 - var-GS19026-1100-36-ASM
hom C @ chr17:71338800

 

GS19129 - var-GS19129-1100-36-ASM
hom C @ chr17:71338800

 

GS19239 - var-GS19239-1100-36-ASM
hom C @ chr17:71338800

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr17:71338800

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr17:71338800

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr17:71338800

 

GS19700 - var-GS19700-1100-36-ASM
hom C @ chr17:71338800

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr17:71338800

 

GS19703 - var-GS19703-1100-36-ASM
hom C @ chr17:71338800

 

GS19704 - var-GS19704-1100-36-ASM
hom C @ chr17:71338800

 

GS19834 - var-GS19834-1100-36-ASM
hom C @ chr17:71338800

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr17:71338800

 

NA12878

 

NA19240

 

Other external references
 

    dbSNP
  • rs1135688
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the UNC13D gene
    Familial Hemophagocytic Lymphohistiocytosis
    Familial Hemophagocytic Lymphohistiocytosis 3
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UNC13D
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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