CFI R406H - 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:

CFI R406H

(CFI Arg406His)


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 @ chr4:110667590: 0.1% (12/10758) in EVS
  • T @ chr4:110887038: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 0.1% (12/10758)

Publications
 

Genomes
 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr4:110667590

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr4:110887039

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr4:110887039

 

Other external references
 

    dbSNP
  • rs74817407
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the CFI gene
    Atypical Hemolytic-Uremic Syndrome
    CFI-Related Atypical Hemolytic-Uremic Syndrome
    Intrinsic Factor Deficiency
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CFI
    PolyPhen-2
  • Score: 0.033 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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