ZFYVE26 P1103L - 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:

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ZFYVE26 P1103L

(ZFYVE26 Pro1103Leu)


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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 @ chr14:68251991: 5.2% (563/10744) in EVS
  • A @ chr14:67321743: 7.9% (10/126) in GET-Evidence
  • Frequency shown in summary reports: 5.2% (563/10744)

Publications
 

Genomes
 

Added in this revision:

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom A @ chr14:68251991

 

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr14:67321744

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr14:67321744

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr14:67321744

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr14:67321744

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr14:67321744

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr14:67321744

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr14:67321744

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr14:67321744

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr14:67321744

 

Other external references
 

    dbSNP
  • rs3742885
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.899 (probably damaging)
    Web search results (2 hits -- see all)
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Type II- 95%
    ... <body><pre>Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... (dbSNP:rs2252755) 14574404 ZFYVE26 Q68DK2 P1103L 1109 VAR_037991 STE ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeII-_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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