LAMB2 R1592W - 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:

LAMB2 R1592W

(LAMB2 Arg1592Trp)


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 @ chr3:49159603: 1.5% (162/10758) in EVS
  • A @ chr3:49134606: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 1.5% (162/10758)

Publications
 

Genomes
 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr3:49134607

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr3:49134607

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr3:49134607

 

Other external references
 

    dbSNP
  • rs61729458
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.725 (possibly damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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