FLG D2339N - 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 D2339N

(FLG Asp2339Asn)


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

  • T @ chr1:152280347: 2.7% (288/10738) in EVS
  • T @ chr1:150546970: 17.9% (20/112) in GET-Evidence
  • Frequency shown in summary reports: 2.7% (288/10738)

Publications
 

Genomes
 

hu04FD18

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom T @ chr1:152280347

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr1:152280347

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr1:152280347

 

huAE6220

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr1:150546971

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr1:150546971

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr1:150546971

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr1:150546971

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr1:150546971

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr1:150546971

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr1:150546971

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr1:150546971

 

GS18956 - var-GS18956-1100-36-ASM
hom T @ chr1:150546971

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr1:150546971

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr1:150546971

 

Other external references
 

    dbSNP
  • rs77166567
    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: 0.993 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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