SIGLEC1 R464H - 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:

SIGLEC1 R464H

(SIGLEC1 Arg464His)


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 @ chr20:3682126: 5.1% (552/10758) in EVS
  • T @ chr20:3630125: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 5.1% (552/10758)

Publications
 

Genomes
 

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr20:3682126

 

 

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr20:3682126

 

 

 

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr20:3630126

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr20:3630126

 

Other external references
 

    dbSNP
  • rs34924243
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (5 hits -- see all)
  • Sialoadhesin precursor - Homo sapiens (Human)
    ... OS=Homo sapiens GN=SIGLEC1 PE=1 SV=2 MGFLPKLLLLASFFPAGQASWGVSSPQDVQGVKGSCLLIPCIFSFPADVEVPDGITAIWY ... SIGLEC1. Synonyms: SN. Organism. Homo sapiens (Human) [Complete proteome] ...
    www.uniprot.org/uniprot/Q9BZZ2
  • SIGLEC1 Gene - GeneCards | SN Protein | SN Antibody
    EntrezGene summary for SIGLEC1: This gene encodes a member of the immunoglobulin ... SIGLEC1 Gene in genomic location: bands according to Ensembl, ...
    genecards.org/cgi-bin/carddisp.pl?gene=SIGLEC1&...&snp=98
  • UniProt: SN_HUMAN
    DT 18-OCT-2001, sequence version 2. DT 20-APR-2010, entry version 90. ... CD169; DE Flags: Precursor; GN Name=SIGLEC1; Synonyms=SN; OS Homo sapiens (Human) ...
    www.genome.jp/dbget-bin/www_bget?uniprot+SN_HUMAN

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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