FLG E2398Q - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

FLG E2398Q

(FLG Glu2398Gln)


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 @ chr1:152280170: 15.4% (1648/10708) in EVS
  • G @ chr1:150546793: 14.4% (15/104) in GET-Evidence
  • Frequency shown in summary reports: 15.4% (1648/10708)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr1:152280170

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het G @ chr1:152280170

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het G @ chr1:152280170

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het G @ chr1:152280170

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr1:152280170

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr1:152280170

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom G @ chr1:152280170

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr1:152280170

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr1:152280170

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr1:150546794

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr1:150546794

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr1:150546794

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr1:150546794

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr1:150546794

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr1:150546794

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr1:150546794

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr1:150546794

 

GS19129 - var-GS19129-1100-36-ASM
het G @ chr1:150546794

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr1:150546794

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr1:150546794

 

Other external references
 

    dbSNP
  • rs71625201
    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: 0.92 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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