NRP1 F561L - 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:

NRP1 F561L

(NRP1 Phe561Leu)


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

  • C @ chr10:33496576: 0.8% (83/10758) in EVS
  • C @ chr10:33536581: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 0.8% (83/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr10:33496576

 

Other external references
 

    dbSNP
  • rs78398035
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (4 hits -- see all)
  • Neuropilin-1 precursor - Homo sapiens (Human)
    NRP1. Synonyms: NRP, VEGF165R. Organism. Homo sapiens (Human) [Complete ... F L: dbSNP rs2228637. VAR_046537. Natural variant. 733. 1. V I: dbSNP ...
    www.uniprot.org/uniprot/O14786
  • NRP1 Gene - GeneCards | NRP1 Protein | NRP1 Antibody
    EntrezGene summary for NRP1: NRP1 is a membrane-bound coreceptor to a ... NRP1 Gene in genomic location: bands according to Ensembl, locations according ...
    genecards.org/cgi-bin/carddisp.pl?gene=NRP1&...&snp=746
  • UniProt: NRP1_HUMAN
    AC O14786; B0LPG9; O60461; Q5T7F2; Q5T7F3; Q96IH5; DT 30-MAY-2000, integrated into ... DE Flags: Precursor; GN Name=NRP1; Synonyms=NRP, VEGF165R; OS Homo ...
    www.genome.jp/dbget-bin/www_bget?uniprot+NRP1_HUMAN

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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