ZFYVE26 T898S - 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:

ZFYVE26 T898S

(ZFYVE26 Thr898Ser)


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 @ chr14:68257352: 9.0% (968/10758) in EVS
  • A @ chr14:67327104: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 9.0% (968/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr14:68257352

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr14:68257352

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
hom A @ chr14:68257352

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr14:68257352

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr14:68257352

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr14:68257352

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr14:68257352

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr14:68257352

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr14:68257352

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr14:68257352

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr14:68257352

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr14:68257352

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr14:67327105

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr14:67327105

 

Other external references
 

    dbSNP
  • rs17192170
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.293 (possibly damaging)
    Web search results (2 hits -- see all)
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... rs17192170*T898S. rs17197552*S642G. rs17199104*D246N. rs17202741*N2005T ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... P80365 R186C 184 VAR_015637 PKC (0.550) AME 7593417 9661590 PKLR P30613 D390N ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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