FLG E2976D - 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 E2976D

(FLG Glu2976Asp)


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 @ chr1:152278434: 26.8% (1770/6594) in EVS
  • G @ chr1:150545057: 40.6% (26/64) in GET-Evidence
  • Frequency shown in summary reports: 26.8% (1770/6594)

Publications
 

Genomes
 

hu0D879F

 

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het G @ chr1:152278434

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr1:152278434

 

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr1:152278434

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr1:152278434

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr1:152278434

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr1:150545058

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr1:150545058

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr1:150545058

 

GS18501 - var-GS18501-1100-36-ASM
hom G @ chr1:150545058

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr1:150545058

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr1:150545058

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr1:150545058

 

GS19017 - var-GS19017-1100-36-ASM
het G @ chr1:150545058

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr1:150545058

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr1:150545058

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr1:150545058

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr1:150545058

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr1:150545058

 

Other external references
 

    dbSNP
  • rs61816760
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs66747339
    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

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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