SIGLEC1 R464H - GET-Evidence

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

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(SIGLEC1 Arg464His)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)




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

  • rs34924243
  • 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] ...
  • 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, ...
  • 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) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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