F5 R513K - 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:

F5 R513K

(F5 Arg513Lys)


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

  • T @ chr1:169519112: 9.8% (1049/10758) in EVS
  • T @ chr1:167785735: 18.0% (23/128) in GET-Evidence
  • Frequency shown in summary reports: 9.8% (1049/10758)

Publications
 

Genomes
 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom T @ chr1:169519112

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr1:169519112

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het T @ chr1:169519112

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr1:167785736

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr1:167785736

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr1:167785736

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr1:167785736

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr1:167785736

 

GS18555 - var-GS18555-1100-36-ASM
hom T @ chr1:167785736

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr1:167785736

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr1:167785736

 

GS18942 - var-GS18942-1100-36-ASM
hom T @ chr1:167785736

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr1:167785736

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr1:167785736

 

GS19025 - var-GS19025-1100-36-ASM
hom T @ chr1:167785736

 

GS19238 - var-GS19238-1100-36-ASM
hom T @ chr1:167785736

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr1:167785736

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr1:167785736

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr1:167785736

 

Other external references
 

    dbSNP
  • rs6020
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the F5 gene
    Budd-Chiari Syndrome
    Factor V Cambridge Thrombophilia
    Factor V Deficiency
    Factor V Leiden Thrombophilia
    Factor V R2 Mutation Thrombophilia
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/F5
    Web search results (3 hits -- see all)
  • Results for SNP search
    1(-)166706489:166706489. snp. by-frequency. A/G. EFFECT. Reference. Ortholog/Homolog. Other ... F5. ENSP00000234736. 349..535. 1.10E-49. R513K. Image Maps * Loading 2D image will take 6~7 ...
    bioportal.ngic.re.kr/SnpNavigator/searchSNP.jsp?snp=rs6020
  • Type III 95%
    ... (s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R 14 ... Polymorphism (dbSNP:rs3865205) 9920877 ST5 P78524 K316N 322 VAR_027101 STE20 (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_95.txt
  • (WO/2007/019634) ARACHNOCAMPA LUCIFERASES
    In particular, the invention relates to proteins and peptides of luciferase ... A452T, L458I, V485L, V486T, G490R, V506L, R513K, V516C, T527A, and a deletion of all ...
    wipo.int/pctdb/en/wo.jsp?wo=2007019634&...&DISPLAY=DESC

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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