FLT4 R1146H - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

FLT4 R1146H

(FLT4 Arg1146His)


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 @ chr5:180039606: 7.3% (784/10758) in EVS
  • T @ chr5:179972211: 3.2% (4/126) in GET-Evidence
  • Frequency shown in summary reports: 7.3% (784/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr5:180039606

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr5:180039606

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr5:180039606

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr5:180039606

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr5:180039606

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom T @ chr5:180039606

 

NA12878

 

Other external references
 

    dbSNP
  • rs1130379
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.003 (benign)
    Web search results (4 hits -- see all)
  • VEGFR3 gene structure, regulatory region, and sequence ...
    Ex26 (R1146H) G3437A. SfaNI. cggcacaaggatgagggc. aatgcaggtctcgccttg. 58 ... Alitalo, K. (1993) Two human FLT4 receptor tyrosine kinase. isoforms with distinct carboxy ...
    www.fasebj.org/cgi/reprint/15/6/1028.pdf
  • VEGFR3 gene structure, regulatory region, and sequence ...
    Key Words: FLT4 • receptor tyrosine kinase • promoter • endothelial cell ... amino acid substitutions in the coding sequence (N149D, T494A, P641S, and R1146H) ...
    www.fasebj.org/cgi/content/full/15/6/1028
  • Gene Polymorphism and allele (or haplotype)
    11391 and – 11377 haplotype. Adiponectin levels. In vivo* {Vasseur, 2002 #426} 5. APOE. E4 ... 2004. 121. FLT4 +3437 G>A (R1146H) brain arteriovenous malformation ...
    www.nanea.dk/cytokinesnps/Datafiles/GAI_datasheet_2006.xls
  • VEGFR-3 in primary lymphedema
    FLT4. fms-like tyrosine kinase 4 (VEGFR-3) FOXC2. forkhead box C2. GDNF ... m s -like tyrosine kinase 4, FLT4) (Galland et al., 1993; Pajusola et ...
    ethesis.helsinki.fi/julkaisut/.../vk/karkkainen/vegfr3in.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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