SIGLEC12 R528W - 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:

SIGLEC12 R528W

(SIGLEC12 Arg528Trp)


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 @ chr19:52000151: 3.3% (353/10758) in EVS
  • A @ chr19:56691962: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 3.3% (353/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr19:52000151

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr19:52000151

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr19:52000151

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr19:52000151

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr19:52000151

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr19:52000151

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom A @ chr19:52000151

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr19:56691963

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr19:56691963

 

Other external references
 

    dbSNP
  • rs61743147
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.9 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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