FLG D2936G - 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 D2936G

(FLG Asp2936Gly)


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

  • C @ chr1:152278555: 9.2% (914/9930) in EVS
  • C @ chr1:150545178: 13.8% (13/94) in GET-Evidence
  • Frequency shown in summary reports: 9.2% (914/9930)

Publications
 

Genomes
 

hu04FD18

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr1:152278555

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het C @ chr1:152278555

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr1:152278555

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr1:152278555

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr1:152278555

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr1:152278555

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr1:152278555

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr1:150545179

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr1:150545179

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr1:150545179

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr1:150545179

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr1:150545179

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr1:150545179

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr1:150545179

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr1:150545179

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr1:150545179

 

Other external references
 

    dbSNP
  • rs80221306
    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 (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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