Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:

Currentness:

(See the latest version)

FECH R102Q

(FECH Arg102Gln)

You are viewing an old version of this page that was saved on June 22, 2011 at 11:57pm by Genome Importing Robot.

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Variant evidence
Computational		-

Functional		-

Case/Control		-

Familial		-


Clinical importance
Severity		-

Treatability		-

Penetrance		-

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

unknown

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

Deleted in this revision:

Other external references

dbSNP

rs1041951
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the FECH gene
Erythropoietic Protoporphyria
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FECH

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

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_C05 from PGP sample 42408046 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_G03 from PGP sample 92527586 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_D03 from PGP sample 27486199 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F06 from PGP sample 64191565 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F02 from PGP sample 70008981 view
Nov 29 2012 Genome Importing Robot added hu34D5B9 exome view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_C02 from PGP sample 10366372 view
Jun 23 2011 Genome Importing Robot removed [NA12156] view
Jun 22 2011 Genome Importing Robot removed Stephen Quake view
Jun 22 2011 Genome Importing Robot removed J. Craig Venter view
Mar 29 2011 Genome Importing Robot added var-GS20509-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS20502-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19669-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19649-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added CGI sample GS00253-DNA_F01_200_37 view
Mar 29 2011 Genome Importing Robot added CGI sample GS00253-DNA_B02_200_37 view
Dec 6 2010 Genome Importing Robot removed CGI sample GS00253-DNA_B02_200_37 view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_B02_200_37 view
Feb 26 2010 Genome Importing Robot added [NA12156] view
Dec 27 2009 Genome Importing Robot added Stephen Quake view
Dec 27 2009 Genome Importing Robot added J. Craig Venter view
Dec 27 2009 Genome Importing Robot added [NA12878] view
Dec 27 2009 Genome Importing Robot added variant view

FECH R102Q - GET-Evidence