FREM2 T2153S - 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.

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Curation:
Currentness:

FREM2 T2153S

(FREM2 Thr2153Ser)


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 @ chr13:39424253: 0.3% (29/10758) in EVS
  • GC @ chr13:38322252: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 0.3% (29/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het GC @ chr13:39424253

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het GC @ chr13:39424253

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het GC @ chr13:39424253

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het GC @ chr13:39424253

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het GC @ chr13:39424253

 

GS06994 - var-GS06994-1100-36-ASM
het GC @ chr13:38322253

 

GS18501 - var-GS18501-1100-36-ASM
het GC @ chr13:38322253

 

Other external references
 

    dbSNP
  • rs35252750
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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