FLG A2108V - 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 A2108V

(FLG Ala2108Val)


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

  • A @ chr1:152281039: 21.3% (2289/10758) in EVS
  • A @ chr1:150547662: 9.8% (8/82) in GET-Evidence
  • Frequency shown in summary reports: 21.3% (2289/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr1:152281039

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr1:152281039

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr1:152281039

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr1:152281039

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr1:152281039

 

 

huAE6220

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr1:150547663

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr1:150547663

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr1:150547663

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr1:150547663

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr1:150547663

 

NA19240

 

Other external references
 

    dbSNP
  • rs7522925
    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 (5 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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