LILRA1 L220P - 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:

LILRA1 L220P

(LILRA1 Leu220Pro)


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 @ chr19:55106865: 21.5% (2312/10758) in EVS
  • C @ chr19:59798676: 29.7% (38/128) in GET-Evidence
  • Frequency shown in summary reports: 21.5% (2312/10758)

Publications
 

Genomes
 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr19:55106865

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr19:55106865

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr19:55106865

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom C @ chr19:55106865

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr19:55106865

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr19:55106865

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr19:55106865

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr19:55106865

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr19:59798677

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr19:59798677

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr19:59798677

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr19:59798677

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr19:59798677

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr19:59798677

 

GS18526 - var-GS18526-1100-36-ASM
hom C @ chr19:59798677

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr19:59798677

 

GS18555 - var-GS18555-1100-36-ASM
hom C @ chr19:59798677

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr19:59798677

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr19:59798677

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr19:59798677

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr19:59798677

 

GS19026 - var-GS19026-1100-36-ASM
hom C @ chr19:59798677

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr19:59798677

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr19:59798677

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr19:59798677

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr19:59798677

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr19:59798677

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr19:59798677

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chr19:59798677

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr19:59798677

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr19:59798677

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr19:59798677

 

NA12878

 

Other external references
 

    dbSNP
  • rs373854
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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