LRRC50 D387E - 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:

LRRC50 D387E

(LRRC50 Asp387Glu)


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 @ chr16:84203595: 7.3% (783/10758) in EVS
  • G @ chr16:82761095: 7.0% (9/128) in GET-Evidence
  • Frequency shown in summary reports: 7.3% (783/10758)

Publications
 

Genomes
 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr16:84203595

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr16:84203595

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr16:84203595

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr16:82761096

 

GS18501 - var-GS18501-1100-36-ASM
het G @ chr16:82761096

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr16:82761096

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr16:82761096

 

GS19703 - var-GS19703-1100-36-ASM
het G @ chr16:82761096

 

GS19834 - var-GS19834-1100-36-ASM
hom G @ chr16:82761096

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr16:82761096

 

Other external references
 

    dbSNP
  • rs36062234
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.951 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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