F5 P1404S - 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:

F5 P1404S

(F5 Pro1404Ser)


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 @ chr1:169510118: 3.7% (398/10758) in EVS
  • A @ chr1:167776741: 10.2% (13/128) in GET-Evidence
  • Frequency shown in summary reports: 3.7% (398/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr1:169510118

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr1:167776742

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr1:167776742

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr1:167776742

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr1:167776742

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr1:167776742

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr1:167776742

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr1:167776742

 

GS19669 - var-GS19669-1100-36-ASM
hom A @ chr1:167776742

 

Other external references
 

    dbSNP
  • rs9332608
    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)
  • Type II- 95%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT ... CK2 (0.555) Polymorphism (dbSNP:rs17655) 8483504 OR5I1 Q13606 F76S 75 VAR_024101 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • Type II- 99%
    ... A6NCV1 R2G 5 VAR_036981 RSK (0.850) Polymorphism (dbSNP:rs7301705) MARK1 Q9P0L2 ... 116 VAR_012292 RSK (0.942) VWM and ovarioleukodystrophy 11704758 12707859 F5 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_99.txt

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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