FECH R102Q - 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:

FECH R102Q

(FECH Arg102Gln)


You are viewing the latest version of this page, saved on November 29, 2012 at 7:18am by Genome Importing Robot.

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 @ chr18:55240505: 12.1% (1299/10758) in EVS
  • T @ chr18:53391502: 7.0% (9/128) in GET-Evidence
  • Frequency shown in summary reports: 12.1% (1299/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr18:55240505

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr18:55240505

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr18:55240505

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr18:55240505

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr18:55240505

 

Added in this revision:

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr18:55240505

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr18:55240505

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr18:55240505

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr18:53391503

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr18:53391503

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr18:53391503

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr18:53391503

 

NA12878

 

Other external references
 

    dbSNP
  • rs1041951
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (1 hit -- see all)
  • Type III 98%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Effect Reference(s) for variant Reference(s) for phosphorylation site ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_98.txt

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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