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:

FLG G444R

(FLG Gly444Arg)

Variant evidence
Computational	1	PolyPhen2: Possibly damaging 0.478 SIFT: Affect protein function 0.00 GVGD: Class C0

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 @ chr1:152286032: 10.7% (1153/10758) in EVS
T @ chr1:150552655: 18.0% (23/128) in GET-Evidence
Frequency shown in summary reports: 10.7% (1153/10758)

Publications

Genomes

Other external references

dbSNP

rs11588170
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the FLG gene
FGFR-Related Craniosynostosis
Kallmann Syndrome
FGFR1-Related Craniosynostosis
Kallmann Syndrome 2
Osteoglophonic Dysplasia
Pfeiffer Syndrome Type 1, 2 and 3
Ichthyosis Vulgaris
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FLG

PolyPhen-2

Score: 0.991 (probably damaging)

Web search results (9 hits -- see all)

Other in silico analyses

NBLOSUM100 score = 6
GET-Evidence autoscore = 3

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_H05 from PGP sample 10971581 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_B03 from PGP sample 14427241 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_A04 from PGP sample 08188426 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_F02 from PGP sample 40767107 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_D02 from PGP sample 27316983 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B05 from PGP sample 83494370 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B04 from PGP sample 88590671 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B01 from PGP sample 86206034 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_H06 from PGP sample 91708424 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 CGI sample GS01173-DNA_C02 from PGP sample 10366372 view
Mar 5 2012 Genome Importing Robot added CGI sample GS000006909 view
Jun 23 2011 Genome Importing Robot removed [NA18956] view
Jun 23 2011 Genome Importing Robot removed [NA12878] view
Jun 22 2011 Genome Importing Robot removed Stephen Quake view
Jun 22 2011 Genome Importing Robot removed [snp-2] view
Jun 22 2011 Genome Importing Robot added PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) view
Jun 15 2011 Han Luu edited variant summary view
Mar 29 2011 Genome Importing Robot added var-GS21767-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS20502-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19735-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19670-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18956-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18942-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18940-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18558-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18537-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18526-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS10851-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS12004-1100-36-ASM view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Sr. view
Dec 6 2010 Genome Importing Robot added hu728FFF build 36 substitution variants view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_F01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_E01_200_37 view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_H01_200_37 view
Feb 26 2010 Genome Importing Robot added CGI sample GS00253-DNA_D01_200_37 view
Feb 17 2010 Genome Importing Robot added Henry Louis Gates Sr. view
Dec 27 2009 Genome Importing Robot added CGI sample GS00253-DNA_A01_200_37 view
Dec 27 2009 Genome Importing Robot added Stephen Quake view
Dec 27 2009 Genome Importing Robot added [NA18956] view
Dec 27 2009 Genome Importing Robot added [NA12878] view
Dec 27 2009 Genome Importing Robot added [snp-2] view
Dec 27 2009 Genome Importing Robot added variant view

FLG G444R - GET-Evidence