LRP2 G259R - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

LRP2 G259R

(LRP2 Gly259Arg)


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

  • G @ chr2:170147502: 5.6% (598/10758) in EVS
  • G @ chr2:169855747: 7.0% (9/128) in GET-Evidence
  • Frequency shown in summary reports: 5.6% (598/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr2:170147502

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr2:170147502

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr2:170147502

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr2:170147502

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr2:170147502

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr2:169855748

 

GS19703 - var-GS19703-1100-36-ASM
het G @ chr2:169855748

 

NA12878

 

Other external references
 

    dbSNP
  • rs34693334
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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