SIGLEC12 P546Q - 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 P546Q

(SIGLEC12 Pro546Gln)


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 @ chr19:51995046: 12.0% (1295/10758) in EVS
  • T @ chr19:56686857: 7.0% (9/128) in GET-Evidence
  • Frequency shown in summary reports: 12.0% (1295/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr19:51995046

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr19:51995046

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr19:51995046

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom T @ chr19:51995046

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr19:51995046

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr19:51995046

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr19:51995046

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr19:51995046

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr19:56686858

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr19:56686858

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr19:56686858

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr19:56686858

 

GS19240 - var-GS19240-1100-36-ASM
hom T @ chr19:56686858

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr19:56686858

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr19:56686858

 

Other external references
 

    dbSNP
  • rs57043266
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.267 (possibly damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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