FREM2 R2066C - 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 R2066C

(FREM2 Arg2066Cys)


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

  • T @ chr13:39422624: 12.1% (1300/10758) in EVS
  • T @ chr13:38320623: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 12.1% (1300/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr13:39422624

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr13:39422624

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr13:39422624

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr13:39422624

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr13:39422624

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr13:38320624

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr13:38320624

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr13:38320624

 

Other external references
 

    dbSNP
  • rs9548505
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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