FREM2 R1668H - 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:

FREM2 R1668H

(FREM2 Arg1668His)


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 @ chr13:39266484: 5.0% (538/10758) in EVS
  • A @ chr13:38164483: 8.6% (11/128) in GET-Evidence
  • Frequency shown in summary reports: 5.0% (538/10758)

Publications
 

Genomes
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr13:39266484

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr13:39266484

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr13:39266484

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr13:39266484

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom A @ chr13:39266484

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr13:38164484

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr13:38164484

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr13:38164484

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr13:38164484

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr13:38164484

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr13:38164484

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr13:38164484

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr13:38164484

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr13:38164484

 

Other external references
 

    dbSNP
  • rs1868463
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.762 (possibly damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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