FLNB V1471M - 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.

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Curation:
Currentness:

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FLNB V1471M

(FLNB Val1471Met)


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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 @ chr3:58118555: 36.3% (3901/10758) in EVS
  • A @ chr3:58093594: 50.0% (64/128) in GET-Evidence
  • Frequency shown in summary reports: 36.3% (3901/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr3:58118555

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr3:58118555

 

NA12156

 

NA12878

 

NA18507

 

NA18517

 

NA18555

 

NA18956

 

NA19129

 

NA19240

 

snp-1

 

snp-2

 

snp-3

 

snp-30

 

snp-31

 

Added in this revision:

snp-32

 

Other external references
 

    dbSNP
  • rs12632456
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the FLNB gene
    Atelosteogenesis Type I
    Atelosteogenesis Type III
    Boomerang Dysplasia
    FLNB-Related Disorders
    Larsen Syndrome
    Spondylocarpotarsal Synostosis Syndrome
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FLNB
    PolyPhen-2
  • Score: 0.02 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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