FLG Y2194H - 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 Y2194H

(FLG Tyr2194His)


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 @ chr1:152280782: 34.8% (3744/10758) in EVS
  • G @ chr1:150547405: 46.9% (60/128) in GET-Evidence
  • Frequency shown in summary reports: 34.8% (3744/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr1:152280782

 

hu04FD18

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom G @ chr1:152280782

 

hu43860C

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr1:152280782

 

hu9385BA

 

 

huAE6220

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom G @ chr1:152280782

 

huE80E3D

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr1:152280782

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr1:150547406

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr1:150547406

 

GS18501 - var-GS18501-1100-36-ASM
hom G @ chr1:150547406

 

GS18502 - var-GS18502-1100-36-ASM
hom G @ chr1:150547406

 

GS18504 - var-GS18504-1100-36-ASM
hom G @ chr1:150547406

 

GS18505 - var-GS18505-1100-36-ASM
hom G @ chr1:150547406

 

GS18508 - var-GS18508-1100-36-ASM
hom G @ chr1:150547406

 

GS18517 - var-GS18517-1100-36-ASM
hom G @ chr1:150547406

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr1:150547406

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr1:150547406

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr1:150547406

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr1:150547406

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr1:150547406

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr1:150547406

 

GS18956 - var-GS18956-1100-36-ASM
hom G @ chr1:150547406

 

GS19017 - var-GS19017-1100-36-ASM
hom G @ chr1:150547406

 

GS19020 - var-GS19020-1100-36-ASM
hom G @ chr1:150547406

 

GS19025 - var-GS19025-1100-36-ASM
hom G @ chr1:150547406

 

GS19026 - var-GS19026-1100-36-ASM
hom G @ chr1:150547406

 

GS19129 - var-GS19129-1100-36-ASM
hom G @ chr1:150547406

 

GS19238 - var-GS19238-1100-36-ASM
hom G @ chr1:150547406

 

GS19239 - var-GS19239-1100-36-ASM
hom G @ chr1:150547406

 

GS19240 - var-GS19240-1100-36-ASM
hom G @ chr1:150547406

 

GS19670 - var-GS19670-1100-36-ASM
het G @ chr1:150547406

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr1:150547406

 

GS19703 - var-GS19703-1100-36-ASM
hom G @ chr1:150547406

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr1:150547406

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr1:150547406

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr1:150547406

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr1:150547406

 

GS21767 - var-GS21767-1100-36-ASM
hom G @ chr1:150547406

 

Other external references
 

    dbSNP
  • rs2184953
    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
    Web search results (8 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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